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Current Protocols in Human Genetics|October 7, 2015
Interpreting de novo Variation in Human Disease Using denovolyzeRJames S Ware, Kaitlin E Samocha, Jason Homsy, et al.Plos Genetics|June 16, 2016
Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of MutationJinmyung Choi, Parisa Shooshtari, Kaitlin E Samocha, et al.Genome Medicine|July 11, 2024
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discoveryXiaolei Zhang, Pantazis I Theotokis, Nicholas Li, et al.Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Autism spectrum disorder severity reflects the average contribution of de novo and familial influencesElise B Robinson, Kaitlin E Samocha, Jack A Kosmicki, et al.Genome Research|June 3, 2018
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotidesSidi Zhang, Kaitlin E Samocha, Manuel A Rivas, et al.Nature Genetics|August 18, 2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomesDouglas M Ruderfer, Tymor Hamamsy, Monkol Lek, et al.Current Protocols in Human Genetics|July 22, 2014
Digital Droplet PCR: CNV Analysis and Other ApplicationsErica Mazaika, Jason HomsyNature Genetics|April 4, 2017
Estimating the selective effects of heterozygous protein-truncating variants from human exome dataChristopher A Cassa, Donate Weghorn, Daniel J Balick, et al.Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.European Journal of Human Genetics : EJHG|November 24, 2016
A framework for the detection of de novo mutations in family-based sequencing dataLaurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, et al.Pageof 70