Author

Kaitlin E Samocha

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:GWAS / association mapping· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Mark J Daly· 4 shared Daniel G MacArthur· 2 shared Konrad J Karczewski· 2 shared Anders Borglum· 1 shared Angelica RonaldiD· 1 shared Anis Memon· 1 shared Anne H ODonnell-Luria· 1 shared Asif Rasheed· 1 shared

Activity by Year

2015-2016 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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4 shared papersGenomics

Mark J Daly

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Author profile →

4 papers

Recent·Most cited

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Konrad J Karczewski, Ben Weisburd, Brett Thomas, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J Daly, Daniel G MacArthur

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.

Nucleic Acids Research · Nov 28, 2016Peer-reviewedGenomics

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H ODonnell-Luria, Kaitlin E Samocha, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, , Sekar Kathiresan

The paper identifies homozygous null mutations in 961 genes in a consanguineous Pakistani cohort and reports their phenotypic consequences.

bioRxiv · Nov 12, 2015Genomics

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Stephan Sanders, Stephan Ripke, Joanna Martin, Mads V Hollegaard, Thomas Werge, David M Hougaard, Benjamin M Neale, , Mark J Daly

The paper identifies genetic links between autism spectrum disorders and typical variation in social behavior and adaptive functioning in the general population.

bioRxiv · Sep 29, 2015Genetics

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

Jinmyung Choi, Parisa Shooshtari, Kaitlin E Samocha, Mark J Daly, Chris Cotsapas

The paper identifies a gene network under strong selective constraint in early fetal brain development and shows it is enriched for genes mutated in neurological disorders.

bioRxiv · Mar 29, 2015Genetics