cran: SKAT | Projects | Ecosyste.ms: Papers

10.1038/s41598-017-09164-7

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach
Cited by: 27
Author(s): Sergio Burillo‐Sanz, Marco-Antonio Montes-Cano, José-Raúl Garcı́a-Lozano, Lourdes Ortiz-Fernández, Norbérto Ortego-Centeno, Francisco-José García-Hernández, Gerard Espinosa, Jenaro Graña Gil, Juan Sánchez‐Bursón, M. R. Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez de la Torre, P. Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez‐Rodríguez, Teresa Camps, Santos Castañeda, Juan José Alegre Sancho, Javier Martı́n, María Francisca González‐Escribano
Software Mentions: 1
Published: over 7 years ago

10.1038/s41598-017-14835-6

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing
Cited by: 18
Author(s): Zhen Zhang, Qi Li, Mei Diao, Na Liu, Cheng Wei, Ping Xiao, Jizhen Zou, Lin Su, Kaihui Yu, Jian Wu, Long Li, Qian Jiang
Software Mentions: 1
Published: about 7 years ago

10.1038/s41598-017-18385-9

Exome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation
Cited by: 1
Author(s): Jianyuan Sun, Karim Oualkacha, Vincenzo Forgetta, Hou Feng Zheng, J. Brent Richards, Daniel S. Evans, Eric S. Orwoll, Celia M.T. Greenwood
Software Mentions: 1
Published: almost 7 years ago

10.1038/s41598-018-21603-7

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population
Cited by: 12
Author(s): Sirui Zhou, Ziv Gan‐Or, Amirthagowri Ambalavanan, Dongbing Lai, Pingxing Xie, Cynthia V. Bourassa, Stephanie Strong, Jay P. Ross, Alexandre Dionne‐Laporte, Dan Spiegelman, Nicolas Dupré, Tatiana Foroud, Lan Xiong, Patrick A. Dion
Software Mentions: 1
Published: over 6 years ago

10.1038/s41598-018-23074-2

New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
Cited by: 17
Author(s): Ho-Sun Lee, Yongkang Kim
Software Mentions: 1
Published: over 6 years ago

10.1038/s41598-019-41827-5

A generalized model for combining dependent SNP-level summary statistics and its extensions to statistics of other levels
Cited by: 7
Author(s): G. R. Svishcheva
Software Mentions: 1
Published: over 5 years ago

10.1038/s41598-019-42202-0

Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study
Cited by: 7
Author(s): Stephanie Loomis, Anna Köttgen, Man Li, Adrienne Tin, Josef Coresh, Eric Boerwinkle, Richard A. Gibbs, Donna M. Muzny, James S. Pankow, Elizabeth Selvin, Priya Duggal
Software Mentions: 1
Published: over 5 years ago

10.1038/s41598-019-43152-3

Exome sequencing in patients with chronic central serous chorioretinopathy
Cited by: 11
Author(s): Rosa L. Schellevis, Myrte B. Breukink, Christian Gilissen, Camiel J F Boon, Carel B. Hoyng, Eiko K. de Jong, Anneke I. den Hollander
Software Mentions: 1
Published: over 5 years ago

10.1038/s41598-020-67699-8

A telescope GWAS analysis strategy, based on SNPs-genes-pathways ensamble and on multivariate algorithms, to characterize late onset Alzheimer’s disease
Cited by: 10
Author(s): Margherita Squillario, Giulia Abate, Federico Tomasi, Veronica Tozzo, Annalisa Barla, Daniela Uberti, Michael W. Weiner, Paul S. Aisen, Ronald C. Petersen, Jack Clifford, William J. Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel A. Beckett, Robert C. Green, Andrew J. Saykin, John Morris, Leslie M. Shaw, Zaven S. Khachaturian, Greg Sorensen, Maria Carrillo, Lew Kuller, Marc Raichle, Steven M. Paul, P. D. O. Davies, Howard Fillit, Franz Hefti, Davie Holtzman, M. Marcel Mesulam, William Z. Potter, Peter J. Snyder, Tom Montine, Ronald G. Thomas, Michael Donohue, Sarah Walter, Tamie Sather, Gus Jiminez, Archana B. Balasubramanian, Jennifer Mason, Iris Sim, Danielle Harvey, Matt A. Bernstein, Nick Fox, Paul M. Thompson, Norbert Schuff, Charles DeCarli, Bret Borowski, Jeff Gunter, Matt Senjem, Prashanthi Vemuri, David T. Jones, Kejal Kantarci, Chad Ward, Robert A. Koeppe, Norm Foster, Eric M. Reiman, Kewei Chen, Chet Mathis, Susan Landau, Nigel J. Cairns, Erin Householder, Lisa Taylor‐Reinwald, Virginia Lee, Magdalena Korecka, Michal Figurski, Karen Crawford, Scott Neu, Tatiana Foroud, Steven G. Potkin, Li Shen, Kelley Faber, Sungeun Kim, Lean Tha, Richard A. Frank, John K. Hsiao, Jeffrey Kaye, Joseph Quinn, Lisa C. Silbert, Betty Lind, Raina Carter, Sara Dolen, Beau M. Ances, Maria Carroll, Mary L. Creech, Erin Franklin, Mark A. Mintun, Stacy Schneider, Angela Oliver, Lon S. Schneider, Sonia Pawluczyk, Mauricio Beccera, Liberty Teodoro, Bryan M. Spann, James B. Brewer, Helen Vanderswag, Adam Fleisher, Daniel C. Marson, Randall Griffith, David W. Clark, David S. Geldmacher, John Brockington, Erik D. Roberson, Marissa Natelson Love, Judith L. Heidebrink, Joanne Lord, Sara S. Mason, Colleen S. Albers, David S. Knopman, Kris Johnson, Hillel Grossman, Effie Mitsis, Raj C. Shah, Leyla de Toledo‐Morrell, Rachelle S. Doody, Javier Villanueva‐Meyer, Munir Chowdhury, Susan Rountree, Mimi Dang, Ranjan Duara, Daniel Varón, Maria T. Greig, Peggy Roberts, Yaakov Stern, Lawrence S. Honig, Karen L. Bell, Marilyn Albert, Chiadi U. Onyike, Daniel D’Agostino, Stephanie Kielb, James E. Galvin, Brittany Cerbone, Christina A. Michel, Dana M. Pogorelec, Henry Rusinek, Mony J. de Leon, Lidia Glodzik, Susan De Santi, Kyle Womack, Dana Mathews, Mary Quiceno, P. Murali Doraiswamy, Jeffrey R. Petrella, Salvador Borges‐Neto, Terence Z. Wong, Edward Coleman, Aĺlan I. Levey, James J. Lah, Janet S. Cella, Jeffrey M. Burns, Russell H. Swerdlow, William M. Brooks, Steven E. Arnold, Jason Karlawish, David A. Wolk, Christopher M. Clark, Liana G. Apostolova, Kathleen Tingus, Ellen Woo, Daniel Silverman, Po H. Lu, George Bartzokis, Charles D. Smith, Greg Jicha, Peter Hardy, Partha Sinha, Elizabeth Oates, Gary Conrad, Neill R. Graff‐Radford, Francine Parfitt, Tracy Kendall, Heather Johnson, Oscar L. López, Mary Ann Oakley, Donna M. Simpson, Martin R. Farlow, Ann Marie Hake, Brandy R. Matthews, Jared R. Brosch, Scott Herring, Cynthia Hunt, Anton P. Porsteinsson, Bonnie S. Goldstein, Kim Martin, Kelly M. Makino, M. Saleem Ismail, Connie Brand, Ruth A. Mulnard, Gaby Thai, Catherine Mc-Adams-Ortiz, Christopher H. van Dyck, Richard E. Carson, Martha G. MacAvoy, Pradeep Varma, Howard Chertkow, Howard Bergman, Chris Hosein, Sandra E. Black, Bojana Stefanović, Curtis Caldwell, Ging‐Yuek Robin Hsiung, Howard Feldman, Benita Mudge, Michele Assaly, Elizabeth Finger, Stephen Pasternack, Irina Rachisky, Dick Trost, Andrew Kertesz, Charles Bernick, Donna Munic, Kristine Lipowski, Masandra Weintraub, Borna Bonakdarpour, Diana Kerwin, Chuang‐Kuo Wu, Nancy Johnson, Carl Sadowsky, Teresa Villena, Raymond Scott Turner, Kathleen Johnson, Brigid Reynolds, Reisa A. Sperling, Keith A. Johnson, Gad Marshall, Jerome A. Yesavage, Joy L. Taylor, Barton Lane, Allyson Rosen, Jared R. Tinklenberg, Marwan N. Sabbagh, Christine M. Belden, Sandra A. Jacobson, Sherye A. Sirrel, Neil W. Kowall, Ronald Killiany, Andrew E. Budson, Alexander Norbash, Patricia Johnson, Thomas O. Obisesan, Saba Wolday, Joanne Allard, Alan J. Lerner, Paula Ogrocki, Curtis Tatsuoka, Parianne Fatica, Evan Fletcher, Pauline Maillard, John Olichney, Owen Carmichael, Smita Kittur, Michael Borrie, T.-Y. Lee, Rob Bartha, Sterling C. Johnson, Sanjay Asthana, Cynthia M. Carlsson, Adrian Preda, Dana Nguyen, Pierre N. Tariot, Anna Burke, Nadira Trncic, Adam Fleisher, Stephanie Reeder, Vernice Bates, Horacio Capote, Michelle Rainka, Douglas W. Scharre, Maria Kataki, Anahita Adeli, Earl A. Zimmerman, Dzintra Celmins, Alice D. Brown, Godfrey D. Pearlson, Karen Blank, Karen Anderson, Laura A. Flashman, Marc Seltzer, Mary L. Hynes, Robert B. Santulli, Kaycee M. Sink, Leslie Gordineer, Jeff D. Williamson, Pradeep Garg, Franklin Watkins, Brian R. Ott, Henry Querfurth, Geoffrey Tremont, Stephen Salloway, Paul Malloy, Stephen Correia, Howard J. Rosen, Bruce L. Miller, David C. Perry, Jacobo Mintzer, Kenneth Spicer, David Bachman, Elizabether Finger, Stephen Pasternak, Irina Rachinsky, John Rogers, Dick J. Drost, Nunzio Pomara, Raymundo Hernando, Antero Sarrael, Susan K. Schultz, Laura L. Boles Ponto, Hyungsub Shim, Karen Ekstam Smith, Norman Relkin, Gloria Chaing, Michael Lin, Lisa Ravdin, Amanda Smith, Balebail Ashok Raj, Kristin Fargher
Software Mentions: 1
Published: over 4 years ago

10.1038/s41598-020-69859-2

The structure of scleractinian coral skeleton analyzed by neutron diffraction and neutron computed tomography
Cited by: 4
Author(s): T. I. Ivankina, С. Е. Кичанов, Octavian G. Duliu, Safa Y. Abdo, M. M. Sherif
Software Mentions: 1
Published: over 4 years ago

10.1038/s41598-020-74650-4

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
Cited by: 13
Author(s): Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H. Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard Keavney, A. J. Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James E. O’Brien, Douglas C. Bittel, Lalita Wadhwa, L. Clifford, Jennifer G. Mullé, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick
Software Mentions: 1
Published: about 4 years ago

10.1038/s41598-020-80944-4

Whole-exome sequencing identifies susceptibility genes and pathways for idiopathic pulmonary fibrosis in the Chinese population
Cited by: 7
Author(s): Carol Fang, Hui Huang, Yujia Feng, Qian Zhang, Na Wang, Xiaoyan Jing, Jian Guo, Martin Ferianc, Zuojun Xu
Software Mentions: 1
Published: almost 4 years ago

10.1038/s41598-021-91367-0

Rare CASP6N73T variant associated with hippocampal volume exhibits decreased proteolytic activity, synaptic transmission defect, and neurodegeneration
Cited by: 6
Author(s): Libin Zhou, Kwangsik Nho, Maria G. Haddad, Nicole Cherepacha, Agne Tubeleviciute-Aydin, Andy Po‐Yi Tsai, Andrew J. Saykin, P. Jesper Sjöström, Andréa C. LeBlanc
Software Mentions: 1
Published: over 3 years ago

10.1038/s41398-020-0804-z

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study
Cited by: 16
Author(s): María Alemany-Navarro, Raquel Cruz, Eva Real, Cinto Segalàs, Sara Bertolín, Raquel Rabionet, Ángel Carracedo, José M. Menchón, Pino Alonso
Software Mentions: 1
Published: over 4 years ago

10.1007/s00439-018-1906-z

Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease
Cited by: 14
Author(s): Yumi Yamaguchi-Kabata, Takashi Morita, Tomoyuki Ohara, Toshiharu Ninomiya, Atsushi Takahashi, Hiroyasu Akatsu, Yoshio Hashizume, Noriyuki Hayashi, Daichi Shigemizu, Keith A. Boroevich, Manabu Ikeda, Michiaki Kubo, Masatoshi Takeda, Tatsuhiko Tsunoda
Software Mentions: 1
Published: over 6 years ago

10.1186/s40246-019-0206-6

Genetics of heart rate in heart failure patients (GenHRate)
Cited by: 8
Author(s): Kaleigh L. Evans, Heidi S. Wirtz, Jia Li, Ruicong She, Juan Maya, Hongsheng Gui, Andrew Hamer, Christophe Depré, David E. Lanfear
Software Mentions: 1
Published: over 5 years ago

10.1186/s40246-020-00271-7

Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging
Cited by: 4
Author(s): Shu-Hua Shen, Chao Li, Xiao Liang, Xiaoming Wang, Hang Lv, Yuan Shi, Yixue Li, Huang Qi
Software Mentions: 1
Published: over 4 years ago

10.1159/000346022

Rare Variant Association Testing for Next-Generation Sequencing Data via Hierarchical Clustering
Cited by: 4
Author(s): Ioanna Tachmazidou, Andrew D. Morris, Eleftheria Zeggini
Software Mentions: 1
Published: almost 13 years ago

10.1093/hmg/ddt376

In search of low-frequency and rare variants affecting complex traits
Cited by: 75
Author(s): Kalliope Panoutsopoulou, Ioanna Tachmazidou, Eleftheria Zeggini
Software Mentions: 1
Published: over 11 years ago

10.1093/hmg/ddw088

Very low-depth sequencing in a founder population identifies a cardioprotective<i>APOC3</i>signal missed by genome-wide imputation
Cited by: 21
Author(s): Arthur Gilly, Graham R. S. Ritchie, Lorraine Southam, Aliki‐Eleni Farmaki, Emmanouil Tsafantakis, George Dedoussis, Eleftheria Zeggini
Software Mentions: 1
Published: over 8 years ago

10.1155/2016/1715985

Embracing Integrative Multiomics Approaches
Cited by: 16
Author(s): Daniel M. Rotroff, Alison A. Motsinger‐Reif
Software Mentions: 1
Published: almost 9 years ago

10.1186/s10194-016-0705-y

A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants
Cited by: 37
Author(s): Elena Bacchelli, Maria Michela Cainazzo, Cinzia Cameli, Simona Guerzoni, Angela Martinelli, Michèle Zoli, Elena Maestrini, Luigi Alberto Pini
Software Mentions: 1
Published: almost 8 years ago

10.1155/2019/2137629

Association of FMO3 Variants with Blood Pressure in the Atherosclerosis Risk in Communities Study
Cited by: 2
Author(s): Tyler S Bryant, Priya Duggal, Bing Yu, Alanna C. Morrison, Tariq Shafi, Georg Ehret, Nora Franceschini, Eric Boerwinkle, Josef Coresh, Adrienne Tin
Software Mentions: 1
Published: almost 6 years ago

10.1038/s41366-020-00675-4

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants
Cited by: 17
Author(s): Bahram Namjou, Ian B. Stanaway, Todd Lingren, Frank Mentch, Barbara Benoit, Ozan Dikilitas, Xinnan Niu, Ning Shang, Ashley H. Shoemaker, David J. Carey, Tooraj Mirshahi, Rajbir Singh, Jordan G. Nestor, Håkon Håkonarson, Joshua C. Denny, David R. Crosslin, Gail P. Jarvik, Iftikhar J. Kullo, Marc S. Williams, John B. Harley
Software Mentions: 1
Published: about 4 years ago

10.3390/ijerph18147231

Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala
Cited by: 6
Author(s): Patrice M. Hicks, Elizabeth Au, William Self, Benjamin Haaland, Michael Feehan, Leah A. Owen, Adam Siedlecki, Elizabeth Nuttall, Deborah Harrison, Andrew L. Reynolds, John H. Lillvis, Sandra Sieminski, Julia Shulman, Margarita Barnoya, Juan Jose Noguera Prera, Orlando Gonzalez, Maureen A. Murtaugh, Lloyd Williams, Michael H. Farkas, Alan S. Crandall, Margaret M. DeAngelis
Software Mentions: 1
Published: over 3 years ago

10.1093/infdis/jix470

Evaluating the Impact of Functional Genetic Variation on HIV-1 Control
Cited by: 20
Author(s): Paul J. McLaren, Sara L. Pulit, Deepti Gurdasani, István Bartha, Patrick R. Shea, Cristina Pomilla, Namrata Gupta, Effrossyni Gkrania‐Klotsas, Elizabeth Young, Norbert Bannert, Julia del Amo, M. John Gill, Jill Gilmour, Paul Kellam, Anthony D. Kelleher, Anders Sönnerborg, Robert Zangerle, Frank A. Post, Martin Fisher, David W. Haas, Bruce D. Walker, Kholoud Porter, David B. Goldstein, Manjinder S. Sandhu, Paul I. W. de Bakker, Jacques Fellay
Software Mentions: 1
Published: about 7 years ago

10.3390/ijms19030688

Advances in the Genetics of Hypertension: The Effect of Rare Variants
Cited by: 37
Author(s): Alessia Russo, Cornelia Di Gaetano, Giovanni Cugliari, Giuseppe Matullo
Software Mentions: 1
Published: over 6 years ago

10.3390/ijms22126274

Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study
Cited by: 5
Author(s): María Angélica Fernández, Alicia de Coo, Inés Quintela, E. Vázquez García, Márcio Diniz‐Freitas, Jacobo Limeres, Pedro Diz, Juan Blanco, Ángel Carracedo, Raquel Cruz
Software Mentions: 1
Published: over 3 years ago

10.1007/s00415-020-09865-6

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
Cited by: 12
Author(s): Thomas Sauvigny, Malik Alawi, Linda Krause, Sina Renner, Michael Spohn, Alice Busch, Verena Kolbe, Janine Altmüller, Britt-Sabina Löscher, André Franke, Christian Brockmann, Wolfgang Lieb, Manfred Westphal, Nils Ole Schmidt, Jan Regelsberger, Georg Rosenberger
Software Mentions: 1
Published: over 4 years ago

10.18632/oncotarget.12545

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans
Cited by: 35
Author(s): Bryan P. Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D. Miller, Anne O’Neill, Joseph A. Sparano, Gloria Xue, Tatiana Foroud, George W. Sledge
Software Mentions: 1
Published: about 8 years ago

10.18632/oncotarget.18803

Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia
Cited by: 9
Author(s): Pu Wang, Xinmiao Fan, Yibei Wang, Yue Fan, Yaping Liu, Shuyang Zhang, Xiaowei Chen
Software Mentions: 1
Published: over 7 years ago

10.20517/jtgg.2018.26

Discovery of rare variants implicated in schizophrenia using next-generation sequencing
Cited by: 4
Author(s): Raina Rhoades, Fatimah Jackson, Shaolei Teng
Software Mentions: 1
Published: almost 6 years ago

10.1038/s41598-017-08468-y

Analysis of population-specific pharmacogenomic variants using next-generation sequencing data
Cited by: 18
Author(s): Eunyong Ahn, Taesung Park
Software Mentions: 1
Published: about 7 years ago

10.1186/s40478-016-0367-7

Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression
Cited by: 41
Author(s): Daniel W. Sirkis, Luke W. Bonham, Renan E. Aparicio, Ethan G. Geier, Eliana Marisa Ramos, Qing Wang, Anna Karydas, Zachary A. Miller, Bruce L. Miller, Giovanni Coppola, Jennifer S. Yokoyama
Software Mentions: 1
Published: about 8 years ago

10.1186/s40478-021-01121-w

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease
Cited by: 20
Author(s): Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto A. Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean‐Jacques Martin, Patrick Cras, Wim Annaert, Christine Van Broeckhoven
Software Mentions: 1
Published: almost 4 years ago

10.1111/acel.12186

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific
Cited by: 86
Author(s): Nicola Raule, Federica Sevini, Shengting Li, Anna Barbieri, Federica Tallaro, Laura Lomartire, Dario Vianello, Alberto Montesanto, Jukka S. Moilanen, Vladislav Bezrukov, Hélène Blanché, Antti Hervonen, Kaare Christensen, Luca Deiana, Efstathios S. Gonos, Tom Kirkwood, Peter Kristensen, Alberta Leon, Pier Giuseppe Pelicci, Michel Poulain, Irene Maeve Rea, José Remacle, Jean-Marie Robine, Stefan Schreiber, Ewa Sikora, P. Eline Slagboom, Liana Spazzafumo, Maria Antonietta Stazi, Olivier Toussaint, James W. Vaupel, Giuseppina Rose, Kari Majamaa, Markus Perola, Thomas E. Johnson, Lars Bolund, Huanming Yang, Giuseppe Passarino, Claudio Franceschi
Software Mentions: 1
Published: almost 11 years ago

10.1111/acel.13362

Genetic signature of human longevity in PKC and NF‐κB signaling
Cited by: 9
Author(s): Seungjin Ryu, Jeehae Han, Trina M. Norden-Krichmar, Quanwei Zhang, Seunggeun Lee, Zhengdong Zhang, Gil Atzmon, Laura J. Niedernhofer, Paul D. Robbins, Nir Barzilai, Nicholas J. Schork, Yousin Suh
Software Mentions: 1
Published: over 3 years ago

10.1016/j.ajhg.2017.04.014

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
Cited by: 118
Author(s): Ioanna Tachmazidou, Dániel Süveges, Josine L. Min, Graham R. S. Ritchie, Julia Steinberg, Klaudia Walter, Valentina Iotchkova, Jeremy Schwartzentruber, Jie Huang, Yasin Memari, Shane McCarthy, Andrew Crawford, Cristina Bombieri, Massimiliano Cocca, Aliki Eleni Farmaki, Tom R. Gaunt, Pekka Jousilahti, Marjolein N. Kooijman, Benjamin Lehne, Giovanni Malerba, Satu Männistö, Angela Matchan, Carolina Medina‐Gomez, Sarah Metrustry, Abhishek Nag, Ιωάννα Ντάλλα, Lavinia Paternoster, Nigel W. Rayner, Cinzia Sala, William R. Scott, Hashem A. Shihab, Lorraine Southam, Beaté St Pourcain, Michela Traglia, Katerina Trajanoska, Gianluigi Zaza, Weihua Zhang, María Soler Artigas, Narinder Bansal, Marianne Benn, Zhongsheng Chen, Petr Danecek, Wei Yu Lin, Adam E. Locke, Jian’an Luan, Alisa K. Manning, Antonella Mulas, Carlo Sidore, Anne Tybjærg‐Hansen, Anette Varbo, Magdalena Żołędziewska, Chris Finan, Konstantinos Hatzikotoulas, Audrey E. Hendricks, John P. Kemp, Alireza Moayyeri, Kalliope Panoutsopoulou, Michał Szpak, Scott G. Wilson, Michael Boehnke, Francesco Cucca, Emanuele Di Angelantonio, Claudia Langenberg, Cecilia M. Lindgren, Mark McCarthy, Andrew P. Morris, Børge G. Nordestgaard, Robert A. Scott, Martin D. Tobin, Nicholas J. Wareham, Paul R. Burton, John C. Chambers, George Davey Smith, George Dedoussis, Janine F. Felix, Oscar H. Franco, Giovanni Gambaro, Paolo Gasparini, Christopher J Hammond, Albert Hofman, Vincent W.V. Jaddoe, Marcus E. Kleber, Jaspal S. Kooner, Markus Perola, Caroline L Relton, Susan M. Ring, Fernando Rivadeneira, Veikko Salomaa, Timothy D. Spector, Oliver Stegle, Daniela Toniolo, André G. Uitterlinden, Inês Barroso, Celia M.T. Greenwood, John R. B. Perry, Brian R. Walker, Adam S. Butterworth, Yali Xue, Richard Durbin, Kerrin S. Small, Nicole Soranzo, Nicholas J. Timpson, Eleftheria Zeggini
Software Mentions: 1
Published: over 7 years ago

10.1016/j.ajhg.2020.04.006

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
Cited by: 36
Author(s): Ridge Dershem, Caroline M Gorvin, Raghu Metpally, Sarathbabu Krishnamurthy, Diane T. Smelser, Fadil Hannan, David J. Carey, Gerda E. Breitwieser
Software Mentions: 1
Published: over 4 years ago

10.1002/ajmg.b.32560

Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia
Cited by: 17
Author(s): Ganna Leonenko, Alexander Richards, James Walters, Andrew Pocklington, Kimberly Chambert, Mariam M. Al Eissa, Sally I. Sharp, Niamh O’Brien, David Curtis, Nick Bass, Andrew McQuillin, Christina M. Hultman, Jennifer L. Moran, Steven A. McCarroll, Pamela Sklar, Benjamin M. Neale, Peter Holmans, Michael John Owen, Patrick F. Sullivan
Software Mentions: 1
Published: over 7 years ago

10.1111/ahg.12051

Utilising Family‐Based Designs for Detecting Rare Variant Disease Associations
Cited by: 13
Author(s): Mark D. Preston, Frank Dudbridge
Software Mentions: 1
Published: over 10 years ago

10.1136/annrheumdis-2016-210592

A rare coding allele in<i>IFIH1</i>is protective for psoriatic arthritis
Cited by: 21
Author(s): Ashley Budu-Aggrey, John Bowes, Philip E. Stuart, Matthew Zawistowski, Lam C. Tsoi, Rajan P. Nair, Deepak R. Jadon, Neil McHugh, Eleanor Korendowych, James T. Elder, Anne Barton, Soumya Raychaudhuri
Software Mentions: 1
Published: over 7 years ago

10.1186/s13075-018-1637-5

Next-generation sequencing profiling of mitochondrial genomes in gout
Cited by: 13
Author(s): Chia‐Chun Tseng, Chung‐Jen Chen, Jeng‐Hsien Yen, Hsi‐Yuan Huang, Jan‐Gowth Chang, Shun‐Jen Chang, Wei‐Ting Liao
Software Mentions: 1
Published: over 6 years ago

10.1186/1471-2105-14-177

The admixture maximum likelihood test to test for association between rare variants and disease phenotypes
Cited by: 14
Author(s): Jonathan P. Tyrer, Qi Guo, Douglas F. Easton, Paul D.P. Pharoah
Software Mentions: 1
Published: over 11 years ago

10.1186/s12859-018-2372-2

Overlapping group screening for detection of gene-gene interactions: application to gene expression profiles with survival trait
Cited by: 4
Author(s): Jie-Huei Wang, Yi‐Hau Chen
Software Mentions: 1
Published: about 6 years ago

10.1186/1471-2105-14-210

Gene set analysis using variance component tests
Cited by: 28
Author(s): Yen‐Tsung Huang, Xihong Lin
Software Mentions: 1
Published: over 11 years ago

10.1186/s12885-017-3722-6

Genomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors
Cited by: 14
Author(s): Jade England, Simon Drouin, Patrick Beaulieu, Pascal St-Onge, Maja Krajinović, Caroline Laverdière, Émile Lévy, Valérie Marcil, Daniel Sinnett
Software Mentions: 1
Published: about 7 years ago

10.1186/s12862-017-0897-z

Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection
Cited by: 14
Author(s): Nasser M. Al-Daghri, Chiara Pontremoli, Rachele Cagliani, Diego Forni, Majed S. Alokail, Omar S. Al‐Attas, Shaun Sabico, Stefania Riva, Mario Clerici, Manuela Sironi
Software Mentions: 1
Published: almost 8 years ago

10.1186/s12863-014-0104-9

Performance of statistical methods on CHARGE targeted sequencing data
Cited by: 1
Author(s): Chuanhua Xing, Josée Dupuis, L. Adrienne Cupples
Software Mentions: 1
Published: about 10 years ago

10.1186/s12863-015-0316-7

Progress in methods for rare variant association
Cited by: 14
Author(s): Stephanie A. Santorico, Audrey E. Hendricks
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12863-015-0182-3

An efficient weighted tag SNP-set analytical method in genome-wide association studies
Cited by: 7
Author(s): Bin Yan, Shudong Wang, Huaqian Jia, Xing Liu, Xinzeng Wang
Software Mentions: 1
Published: over 9 years ago

10.1186/s12863-015-0310-0

Above and beyond state-of-the-art approaches to investigate sequence data: summary of methods and results from the population-based association group at the Genetic Analysis Workshop 19
Cited by: 3
Author(s): Justo Lorenzo Bermejo
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12863-015-0317-6

Joint analysis of multiple phenotypes: summary of results and discussions from the Genetic Analysis Workshop 19
Cited by: 4
Author(s): Arne Schillert, Stefan Konigorski
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12863-015-0314-9

Pathway-based analyses
Cited by: 3
Author(s): Jr Jack W. Kent
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12863-017-0479-5

Opportunities and challenges of whole-genome and -exome sequencing
Cited by: 145
Author(s): Britt‐Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, David Ellinghaus, André Franke
Software Mentions: 1
Published: almost 8 years ago

10.1186/s12863-018-0679-7

Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth
Cited by: 27
Author(s): Aaron Hamvas, Rui Feng, Yingtao Bi, Fan Wang, Soumyaroop Bhattacharya, Jared A. Mereness, Madhurima Kaushal, C. Michael Cotten, Philip L. Ballard, Thomas J. Mariani
Software Mentions: 1
Published: about 6 years ago

10.1186/s12863-015-0315-8

Machine learning and data mining in complex genomic data—a review on the lessons learned in Genetic Analysis Workshop 19
Cited by: 11
Author(s): Inke R. König, Jonathan Auerbach, Damian Gola, Elizabeth Held, Emily R. Holzinger, Marc André Legault, Rui Sun, Nathan L. Tintle, Hsin-Chou Yang
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12863-015-0318-5

Family-based approaches: design, imputation, analysis, and beyond
Cited by: 11
Author(s): Ellen M. Wijsman
Software Mentions: 1
Published: almost 9 years ago

10.1186/s12864-018-4910-8

Stepwise approach to SNP-set analysis illustrated with the Metabochip and colorectal cancer in Japanese Americans of the Multiethnic Cohort
Cited by: 4
Author(s): John B. Cologne, Lenora W. M. Loo, Yurii B. Shvetsov, Munechika Misumi, Philip Lin, Christopher A. Haiman, Lynne R. Wilkens, Loı̈c Le Marchand
Software Mentions: 1
Published: over 6 years ago

10.1186/s12864-017-4287-0

Independent impacts of aging on mitochondrial DNA quantity and quality in humans
Cited by: 106
Author(s): Ruoyu Zhang, Yiqin Wang, Kaixiong Ye, Martin Picard, Zhenglong Gu
Software Mentions: 1
Published: about 7 years ago

10.1186/s12864-018-4906-4

Germline and somatic variations influence the somatic mutational signatures of esophageal squamous cell carcinomas in a Chinese population
Cited by: 18
Author(s): Jin-Tao Guo, Jiankun Huang, Ying Zhou, Yulin Zhou, Liying Yu, Huili Li, Lingyun Hou, Liuwei Zhu, Dongyu Ge, Yuanyuan Zeng, Bayasi Guleng, Qiyuan Li
Software Mentions: 1
Published: over 6 years ago

10.1186/s12864-016-3094-3

AP-SKAT: highly-efficient genome-wide rare variant association test
Cited by: 7
Author(s): Takanori Hasegawa, Kazuyuki Kojima, Yosuke Kawai, Kazuharu Misawa, Tsuneyo Mimori, Masao Nagasaki
Software Mentions: 1
Published: about 8 years ago

10.1186/1471-2164-14-50

Comparison of similarity-based tests and pooling strategies for rare variants
Cited by: 2
Author(s): Sergii Zakharov, Agus Salim, Anbupalam Thalamuthu
Software Mentions: 1
Published: almost 12 years ago

10.1186/s12909-020-02482-x

Evaluating the impact of a medical school cohort sexual health course on knowledge, counseling skills and sexual attitude change
Cited by: 9
Author(s): Michael W. Ross, Carey Roth Bayer, A.W. Shindel, Eli Coleman
Software Mentions: 1
Published: almost 4 years ago

10.1186/1471-2350-13-52

SNP-set analysis replicates acute lung injury genetic risk factors
Cited by: 17
Author(s): Nuala J. Meyer, Z. John Daye, Melanie Rushefski, Richard Aplenc, Paul N. Lanken, Michael G. S. Shashaty, Jason D. Christie, Rui Feng
Software Mentions: 1
Published: over 12 years ago

10.1186/s12881-020-01046-6

Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer’s disease endophenotypes
Cited by: 2
Author(s): Yuriko Katsumata, David W. Fardo
Software Mentions: 1
Published: over 4 years ago

10.1186/s12881-015-0250-6

Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study
Cited by: 12
Author(s): Vipavee Niemsiri, Xingbin Wang, Dilek Pirim, Zaheda H. Radwan, Clareann H. Bunker, M. Michael Barmada, M. Ilyas Kamboh, F. Yesim Demirci
Software Mentions: 1
Published: about 9 years ago

10.1186/s12920-021-01073-z

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects
Cited by: 5
Author(s): Feng Lin, Wanhui Lin, Chaofeng Zhu, Ji-lan Lin, Jingxian Zhu, Xuying Li, Zhanjun Wang, Chaodong Wang, Huapin Huang
Software Mentions: 1
Published: about 3 years ago

10.1186/s12920-018-0345-y

WISARD: workbench for integrated superfast association studies for related datasets
Cited by: 10
Author(s): Sung Young Lee, Sungkyoung Choi, Dandi Qiao, Michael Cho, Edwin K. Silverman, Taesung Park, Sungho Won
Software Mentions: 1
Published: over 6 years ago

10.1186/s12920-018-0323-4

Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects
Cited by: 14
Author(s): Hiromi Seo, Eun Jin Kwon, Young Ah You, Yoomi Park, Byung Joo Min, Kyunghun Yoo, Han Sung Hwang, Ju Han Kim, Young Ju Kim
Software Mentions: 1
Published: almost 7 years ago

10.1186/s12920-016-0236-z

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
Cited by: 11
Author(s): John Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Gregory Yin Ming Cheng, Clara S. Tang, Patrick Ho Yu Chung, Ngoc Son Tran, Man-Ting So, Stacey S. Cherny, Pak C. Sham, Paul K. H. Tam, María-Mercé García-Barceló
Software Mentions: 1
Published: almost 8 years ago

10.1186/s12920-018-0339-9

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
Cited by: 4
Author(s): Claudia Tamar Silva, Irina V. Zorkoltseva, Maartje N. Niemeijer, Marten E. van den Berg, Najaf Amin, Ayşe Demirkan, Elisa van Leeuwen, A. Iglesias, Laura B. Piñeros-Hernández, Carlos Martín Restrepo, Jan A. Kors, A. V. Kirichenko, Rob Willemsen, Ben A. Oostra, Bruno H. Stricker, André G. Uitterlinden, Tatiana I. Axenovich, Cornelia M. van Duijn, Aaron Isaacs
Software Mentions: 1
Published: over 6 years ago

10.1186/s12911-017-0454-0

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease
Cited by: 14
Author(s): Dokyoon Kim, Anna O. Basile, Lisa Bang, Emrin Horgusluoglu, SeungGeun Lee, Marylyn D. Ritchie, Andrew J. Saykin, Kwangsik Nho
Software Mentions: 1
Published: over 7 years ago

10.1186/s40608-017-0145-5

Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults
Cited by: 5
Author(s): Jacklyn N. Hellwege, Digna R. Velez Edwards, Sari Acra, Kong Y. Chen, Maciej S. Buchowski, Todd L. Edwards
Software Mentions: 1
Published: over 7 years ago

10.1186/s12886-015-0008-0

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)
Cited by: 35
Author(s): Felix Graßmann, Richard Bergholz, Julia Mändl, Herbert Jägle, Klaus Rüether, Bernhard H. F. Weber
Software Mentions: 1
Published: over 9 years ago

10.1186/s12919-016-0024-y

A general method for combining different family-based rare-variant tests of association to improve power and robustness of a wide range of genetic architectures
Cited by: 4
Author(s): Alden Green, Kaitlyn Cook, Kelsey Grinde, Alessandra M. Valcarcel, Nathan L. Tintle
Software Mentions: 1
Published: about 8 years ago

10.1186/1753-6561-8-S1-S28

A generalized least-squares framework for rare-variant analysis in family data
Cited by: 1
Author(s): Dalin Li, Jerome I. Rotter, Xiuqing Guo
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S27

Comparing the power of family-based association tests for sequence data with applications in the GAW18 simulated data
Cited by: 3
Author(s): Jing Huang, Yong Chen, Michael D. Swartz, Iuliana Ionita‐Laza
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S14

Higher criticism approach to detect rare variants using whole genome sequencing data
Cited by: 2
Author(s): Jing Xuan, Yang Li, Zheyang Wu
Software Mentions: 1
Published: over 10 years ago

10.1186/s12919-016-0040-y

Incorporating ENCODE information into association analysis of whole genome sequencing data
Cited by: 7
Author(s): Tae‐Beom Kim, Peng Wei
Software Mentions: 1
Published: about 8 years ago

10.1186/1753-6561-8-S1-S35

Rare genetic variant analysis on blood pressure in related samples
Cited by: 5
Author(s): Han Chen, Seung Hoan Choi, Jaeyoung Hong, Ciyong Lu, Jacqueline N. Milton, Catherine Allard, Seán Lacey, Honghuang Lin, Josée Dupuis
Software Mentions: 1
Published: over 10 years ago

10.1186/s12919-016-0028-7

Comparison of multiple single-nucleotide variant association tests in a meta-analysis of Genetic Analysis Workshop 19 family and unrelated data
Cited by: 0
Author(s): Shuai Wang, Virginia Fisher, Yuning Chen, Josée Dupuis
Software Mentions: 1
Published: about 8 years ago

10.1186/s12919-016-0048-3

Joint analysis of multiple blood pressure phenotypes in GAW19 data by using a multivariate rare-variant association test
Cited by: 6
Author(s): Jianyuan Sun, Sahir Bhatnagar, Karim Oualkacha, Antonio Ciampi, Celia M.T. Greenwood
Software Mentions: 1
Published: about 8 years ago

10.1186/s12919-018-0125-x

Integrative methylation score to identify epigenetic modifications associated with lipid changes resulting from fenofibrate treatment in families
Cited by: 5
Author(s): Biqi Wang, Anita L. DeStefano, Honghuang Lin
Software Mentions: 1
Published: about 6 years ago

10.1186/s12919-016-0022-0

A clustering approach to identify rare variants associated with hypertension
Cited by: 2
Author(s): Rui Sun, Qiao Deng, Inchi Hu, Benny Zee, Maggie Haitian Wang
Software Mentions: 1
Published: about 8 years ago

10.1186/1753-6561-8-S1-S39

Adjustment of familial relatedness in association test for rare variants
Cited by: 1
Author(s): Cong Liu, Can Yang, Mengjie Chen, Xiaowei Chen, Lin Hou, Hongyu Zhao
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S9

Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data
Cited by: 7
Author(s): Andriy Derkach, J. F. Lawless, Daniele Merico, Andrew D. Paterson, Lei Sun
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S33

A comparative analysis of family-based and population-based association tests using whole genome sequence data
Cited by: 8
Author(s): Jin Zhou, Wai Ki Yip, Michael H. Cho, Dandi Qiao, Merry-Lynn McDonald, Nan M. Laird
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S47

A dual-clustering framework for association screening with whole genome sequencing data and longitudinal traits
Cited by: 2
Author(s): Ying Liu, Chien-Hua Huang, Inchi Hu, Shaw-Hwa Lo, Zheng Tian
Software Mentions: 1
Published: over 10 years ago

10.1186/s12919-016-0045-6

Genetic association analysis based on a joint model of gene expression and blood pressure
Cited by: 2
Author(s): Stefan Konigorski, Yildiz E. Yilmaz, Tobias Pischon
Software Mentions: 1
Published: about 8 years ago

10.1186/1753-6561-8-S1-S51

A goodness-of-fit association test for whole genome sequencing data
Cited by: 3
Author(s): Yang Li, Jing Xuan, Zheyang Wu
Software Mentions: 1
Published: over 10 years ago

10.1186/s12919-016-0033-x

A combined association test for rare variants using family and case-control data
Cited by: 1
Author(s): Peng-Lin Lin, Wei-Yun Tsai, Ren‐Hua Chung
Software Mentions: 1
Published: about 8 years ago

10.1186/1753-6561-8-S1-S13

Small sample properties of rare variant analysis methods
Cited by: 2
Author(s): Michael D. Swartz, Taebeom Kim, Jiangong Niu, Robert Yu, Sanjay Shete, Iuliana Ionita‐Laza
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S53

Application of noncollapsing methods to the gene-based association test: a comparison study using Genetic Analysis Workshop 18 data
Cited by: 4
Author(s): Tian-Xiao Zhang, Yi-Ran Xie, John P. Rice
Software Mentions: 1
Published: over 10 years ago

10.1186/1753-6561-8-S1-S10

Rare variant analysis of blood pressure phenotypes in the Genetic Analysis Workshop 18 whole genome sequencing data using sequence kernel association test
Cited by: 3
Author(s): Cates Mallaney, Yun Ju Sung
Software Mentions: 1
Published: over 10 years ago

10.1186/s12919-016-0055-4

A multistep approach to single nucleotide polymorphism–set analysis: an evaluation of power and type I error of gene-based tests of association after pathway-based association tests
Cited by: 2
Author(s): Alessandra M. Valcarcel, Kelsey Grinde, Kaitlyn Cook, Alden Green, Nathan L. Tintle
Software Mentions: 1
Published: about 8 years ago

10.1186/1471-2458-12-972

Prevalence and correlates of sexual behaviors among university students: a study in Hefei, China
Cited by: 43
Author(s): Xinli Chi, Lu Yu, Sam Winter
Software Mentions: 1
Published: about 12 years ago

10.1186/s12890-016-0309-y

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
Cited by: 11
Author(s): Hans Matsson, Cilla Sӧderhӓll, Elisabet Einarsdottir, Maxime Lamontagne, Sanna Gudmundsson, Helena Bäckman, Anne Lindberg, Eva Rönmark, Juha Kere, Don D. Sin, Dirkje S. Postma, Yohan Bossé, Bo Lundbäck, Joakim Klar
Software Mentions: 1
Published: about 8 years ago

10.1186/s12918-018-0543-4

GxGrare: gene-gene interaction analysis method for rare variants from high-throughput sequencing data
Cited by: 7
Author(s): Minseok Kwon, Sangseob Leem, Joon Yoon, Taesung Park
Software Mentions: 1
Published: over 6 years ago

10.1186/s13040-016-0107-3

A biologically informed method for detecting rare variant associations
Cited by: 13
Author(s): Carrie Colleen Buchanan Moore, Anna O. Basile, John R. Wallace, Alex T. Frase, Marylyn D. Ritchie
Software Mentions: 1
Published: about 8 years ago

Projects: cran: SKAT

Papers Mentioning SKAT 407