pypi: vt | Projects | Ecosyste.ms: Papers

10.3389/fgene.2021.640242

A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects
Cited by: 7
Author(s): Dustin Miller, Stephen R. Piccolo
Software Mentions: 11
Published: almost 4 years ago

10.1016/j.celrep.2019.11.077

Integrated Epigenome, Exome, and Transcriptome Analyses Reveal Molecular Subtypes and Homeotic Transformation in Uterine Fibroids
Cited by: 42
Author(s): Jitu W. George, Huihui Fan, Benjamin K. Johnson, Tyler J. Carpenter, Kelly K. Foy, Anindita Chatterjee, Amanda L. Patterson, Julie Koeman, Marie Adams, Zachary Madaj, David Chesla, Erica E. Marsh, Timothy J. Triche, Hui Shen, Jose Teixeira
Software Mentions: 9
Published: about 5 years ago

10.1371/journal.pgen.1008671

PEA15 loss of function and defective cerebral development in the domestic cat
Cited by: 3
Author(s): Emily C. Graff, J. Nicholas Cochran, Christopher B. Kaelin, Kenneth Day, Heather L. Gray‐Edwards, Rie Watanabe, Jey W. Koehler, Rebecca A. Falgoust, Jeremy W. Prokop, R Myers, Nancy R. Cox, Gregory S. Barsh, Douglas R. Martin
Software Mentions: 9
Published: about 4 years ago

10.1186/s13059-020-02160-7

Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph
Cited by: 33
Author(s): Rui Martiniano, Erik Garrison, Eppie R. Jones, Andrea Manica, Richard Durbin
Software Mentions: 6
Published: over 4 years ago

10.3389/fvets.2021.733357

Chytridiomycosis Outbreak in a Chilean Giant Frog (Calyptocephalella gayi) Captive Breeding Program: Genomic Characterization and Pathological Findings
Cited by: 5
Author(s): Mario Alvarado‐Rybak, Paz Acuña, Alexandra Peñafiel‐Ricaurte, Thomas R. Sewell, Simon J. O’Hanlon, Matthew C. Fisher, Andrés Valenzuela‐Sánchez, Andrew A. Cunningham, Claudio Soto‐Azat
Software Mentions: 6
Published: about 3 years ago

10.1002/ana.26009

The Effect of <scp> <i>SMN</i> </scp> Gene Dosage on <scp>ALS</scp> Risk and Disease Severity
Cited by: 9
Author(s): Matthieu Moisse, Ramona A J Zwamborn, Joke J.F.A. van Vugt, Rick A. A. van der Spek, Wouter van Rheenen, Brendan Kenna, Kristel van Eijk, Kevin P. Kenna, Philippe Corcia, Philippe Couratier, Patrick Vourc’h, Orla Hardiman, Russell L. McLaughlin, Marc Guillaume, Vivian E. Drory, Nicola Ticozzi, Vincenzo Silani, Mamede de Carvalho, Jesús Mora, Mónica Povedano, Michael Benatar, Markus Weber, A. Nazlı Başak, Xiao Chen, Michael A. Eberle, Ammar Al‐Chalabi, Christopher E. Shaw, Pamela J. Shaw, Karen Morrison, John E. Landers, Jonathan D. Glass, Wim Robberecht, Michael A. van Es, Leonard H. van den Berg, Jan H. Veldink, Philip Van Damme
Software Mentions: 6
Published: almost 4 years ago

10.7554/eLife.48476

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease
Cited by: 29
Author(s): Matteo D’Antonio, Joaquin Reyna, David Jakubosky, Maureen D. Donovan, Marc Jan Bonder, Hiroko Matsui, Oliver Stegle, Naoki Nariai, Agnieszka D’Antonio‐Chronowska, Kelly A. Frazer
Software Mentions: 5
Published: about 5 years ago

10.12688/wellcomeopenres.11640.1

ClinVar data parsing
Cited by: 18
Author(s): Xiaolei Zhang, Eric Vallabh Minikel, Anne O’Donnell-Luria, Daniel G. MacArthur, James S. Ware, Ben Weisburd
Software Mentions: 4
Published: over 7 years ago

10.1371/journal.pone.0249254

Large-scale analysis of SARS-CoV-2 spike-glycoprotein mutants demonstrates the need for continuous screening of virus isolates
Cited by: 32
Author(s): Barbara Schrörs, Pablo Riesgo-Ferreiro, Patrick Sorn, Ranganath Gudimella, Thomas Bukur, Thomas W. Rösler, Martin Löwer, Uğur Şahin
Software Mentions: 4
Published: about 3 years ago

10.1038/s41598-017-14400-1

UPS-indel: a Universal Positioning System for Indels
Cited by: 6
Author(s): Mohammad Shabbir Hasan, Xiaowei Wu, Layne T. Watson, Liqing Zhang
Software Mentions: 4
Published: about 7 years ago

10.1371/journal.pone.0258375

Toward a methodology for evaluating DNA variants in nuclear families
Cited by: 0
Author(s): Dustin Miller, Reid Robison, Stephen R. Piccolo
Software Mentions: 3
Published: about 3 years ago

10.3389/fgene.2019.00856

Evaluation of the Performance of AmpliSeq and SureSelect Exome Sequencing Libraries for Ion Proton
Cited by: 8
Author(s): Piyush Gampawar, Yasaman Saba, Ulrike Werner, Reinhold Schmidt, Bertram Müller‐Myhsok, Helena Schmidt
Software Mentions: 2
Published: about 5 years ago

10.12688/f1000research.26848.2

CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline
Cited by: 0
Author(s): Dustin Miller, Stephen R. Piccolo
Software Mentions: 2
Published: almost 4 years ago

10.1186/s13059-016-0974-4

The Ensembl Variant Effect Predictor
Cited by: 4,572
Author(s): William McLaren, Laurent Gil, Sarah Hunt, Harpreet Singh Riat, Graham R. S. Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham
Software Mentions: 2
Published: over 8 years ago

10.1186/s13073-020-00725-6

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Cited by: 39
Author(s): Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Software Mentions: 2
Published: almost 5 years ago

10.1038/s41598-018-24967-y

Whole exome sequencing reveals rare variants linked to congenital pouch colon
Cited by: 16
Author(s): Praveen Mathur, Krishna Mohan Medicherla, Spandan Chaudhary, Mruduka S. Patel, Prashanth Bagali, Prashanth Suravajhala
Software Mentions: 2
Published: over 6 years ago

10.3390/genes10090631

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
Cited by: 19
Author(s): Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi
Software Mentions: 1
Published: over 5 years ago

10.1186/s12864-018-4433-3

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Cited by: 13
Author(s): Mahmoud Koko, Mohammed O.E Abdallah, Mutaz Amin, Muntaser E. Ibrahim
Software Mentions: 1
Published: almost 7 years ago

10.1371/journal.pone.0164233

Germline Variants of Prostate Cancer in Japanese Families
Cited by: 19
Author(s): Takahide Hayano, Hiroshi Matsui, Hirofumi Nakaoka, Nobuaki Ohtake, Kazuyoshi Hosomichi, Kazuhiro Suzuki, Ituro Inoue
Software Mentions: 1
Published: about 8 years ago

10.1093/hmg/ddz077

The lysosomal disease caused by mutant VPS33A
Cited by: 23
Author(s): Elena Pavlova, Aleksey Shatunov, Lena Wartosch, Alena I Moskvina, Lena E Nikolaeva, Nicholas A. Bright, Karen Tylee, Heather J. Church, Andrea Ballabio, J. Paul Luzio, Timothy M. Cox
Software Mentions: 1
Published: over 5 years ago

10.1186/s12881-019-0806-y

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Cited by: 8
Author(s): Lukáš Varga, Daniel Daniš, Martina Škopková, Ivica Mašindová, Zuzana Slobodová, Lucia Demesova, Milan Profant
Software Mentions: 1
Published: over 5 years ago

10.1186/s40478-020-01017-1

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Cited by: 3
Author(s): Joshua S. Clayton, Elyshia McNamara, Hayley Goullée, Stefan Conijn, K. Muthsam, Gabrielle C. Musk, David Coote, James W. Kijas, Alison C. Testa, Rhonda L. Taylor, A.J. O’Hara, David Groth, Coen A.C. Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak
Software Mentions: 1
Published: over 4 years ago

10.3389/fonc.2017.00214

Resources for Interpreting Variants in Precision Genomic Oncology Applications
Cited by: 17
Author(s): Hsinyi Tsang, KanakaDurga Addepalli, Sean Davis
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0213350

A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
Cited by: 8
Author(s): Matilda Rentoft, Daniel Svensson, Andreas Sjödin, Pall I. Olason, Olle Sjöström, Carin Nylander, Pia Osterman, Rickard Sjögren, Sergiu Netotea, Carl Wibom, Kristina Cederquist, Andrei Chabes, Johan Trygg, Beatrice Melin, Erik Johansson
Software Mentions: 1
Published: over 5 years ago

Ecosyste.ms: Papers

Projects: pypi: vt

Papers Mentioning vt 24