Ecosyste.ms: Papers

An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.

Projects: bioconductor: DECIPHER

https://packages.ecosyste.ms/registries/bioconductor.org/packages/DECIPHER

Tools for curating, analyzing, and manipulating biological sequences
1 version
Latest release: about 1 year ago
7 dependent packages
178,235 downloads total

Papers Mentioning DECIPHER 415

10.1038/s41436-020-01021-9

Evaluating variants classified as pathogenic in ClinVar in the DDD Study
Cited by: 15
Author(s): Caroline F. Wright, Ruth Y Eberhardt, Panayiotis Constantinou, Matthew E. Hurles, David R. FitzPatrick, Helen V. Firth, Ddd Study
Software Mentions: 1
Published: over 3 years ago

10.1590/1678-4685-GMB-2016-0049

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Cited by: 5
Author(s): Natália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa Do Carmo Lisboa Cardenas, Heloísa B. Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos A. Bacino, Bruno Delobel, Paul James, Ann‐Charlotte Thuresson, Göran Annerén, Sérgio D.J. Pena
Software Mentions: 1
Published: over 8 years ago

10.1590/1678-4685-GMB-2019-0218

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients
Cited by: 4
Author(s): Victória Cabral Silveira Monteiro de Godoy, Fernanda Teixeira da Silva Bellucco, Mileny Esbravatti Stephano Colovati, Hélio Rodrigues de Oliveira-Júnior, Mariana Moysés-Oliveira, Maria Isabel Melaragno
Software Mentions: 1
Published: almost 5 years ago

10.1155/2013/546909

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation
Cited by: 3
Author(s): Fakher Rahim, Hamid Galehdari, Javad Mohammadi-Asl, Najmaldin Saki
Software Mentions: 1
Published: over 11 years ago

10.1186/s13059-014-0423-1

Deletions of chromosomal regulatory boundaries are associated with congenital disease
Cited by: 122
Author(s): Jonas Ibn-Salem, Sebastian Köhler, Michael I. Love, Ho Ryun Chung, Ni Huang, Matthew E. Hurles, Melissa A. Haendel, Nicole Washington, Damian Smedley, Christopher J. Mungall, Suzanna Lewis, Claus‐Eric Ott, Sebastian Bauer, Paul N. Schofield, Stefan Mundlos, Malte Spielmann, Peter N. Robinson
Software Mentions: 1
Published: about 10 years ago

10.1186/s13073-014-0078-2

Genomic data sharing for translational research and diagnostics
Cited by: 7
Author(s): Peter N. Robinson
Software Mentions: 1
Published: about 10 years ago

10.1186/s13073-015-0199-2

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
Cited by: 91
Author(s): Damian Smedley, Peter N. Robinson
Software Mentions: 1
Published: over 9 years ago

10.1186/s13073-017-0433-1

Genomic diagnosis for children with intellectual disability and/or developmental delay
Cited by: 165
Author(s): Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta Engel, J. Nicholas Cochran, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana Whittle, Benjamin Weaver, Amy S. Nesmith, R Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Software Mentions: 1
Published: over 7 years ago

10.1186/s13073-017-0463-8

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
Cited by: 36
Author(s): Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan‐Khetarpal, Elena Infante, Zeynep Coban‐Akdemir, Karol Miszalski−Jamka, John L. Jefferies, Jill A. Rosenfeld, Lisa Emrick, Kimberly Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
Software Mentions: 1
Published: over 7 years ago

10.1111/tan.14195

<scp> <i>HLA‐E</i> </scp> diversity unfolded: Identification and characterization of 170 novel <scp> <i>HLA‐E</i> </scp> alleles
Cited by: 10
Author(s): Christin Paech, Viviane Albrecht, Kathrin Putke, Gerhard Schöfl, Bianca Schöne, Alexander H. Schmidt, Vinzenz Lange, Anja Klußmeier
Software Mentions: 1
Published: almost 4 years ago

10.1186/s41065-020-00132-2

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing
Cited by: 3
Author(s): Yan Meng, Jun Yang, Chan Tian, Jie Qiao
Software Mentions: 1
Published: over 4 years ago

10.3390/jcm3020663

Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?
Cited by: 13
Author(s): Evangelia Karampetsou, Deborah Morrogh, Lyn S. Chitty
Software Mentions: 1
Published: over 10 years ago

10.3390/jcm3031018

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis
Cited by: 53
Author(s): Lauren Westerfield, Sandra Darilek, Ignatia B. Van den Veyver
Software Mentions: 1
Published: about 10 years ago

10.4274/jcrpe.4324

Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1
Cited by: 1
Author(s): Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luís Castaño, Raquel Barrio
Software Mentions: 1
Published: almost 7 years ago

10.1007/s13238-018-0544-5

Single-cell metagenomics: challenges and applications
Cited by: 61
Author(s): Yuan Xu, Fangqing Zhao
Software Mentions: 1
Published: over 6 years ago