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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.Genetics|May 5, 2010
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populationsRiyan Cheng, Jackie E Lim, 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.Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, 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.Nature|March 24, 2022
Reduced reproductive success is associated with selective constraint on human genesEugene J Gardner, Matthew D C Neville, Kaitlin E Samocha, et al.Biorxiv : the Preprint Server for Biology|June 22, 2026
Inference of elevated mutation rates and variant effects using 700k exomesPrathitha Kar, Mikhail A Moldovan, Jeremy Guez, et al.Pageof 6