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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4 papers

Recent·Most cited

GenomicsNucleic Acids ResearchPeer-reviewedNov 28, 2016

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

Konrad J Karczewski, Ben Weisburd, Brett Thomas…·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.

DOI 10.1093/nar/gkw971

humanwhole-exome sequencing

GenomicsbioRxivNov 12, 2015

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao…·Sekar Kathiresan

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

DOI 10.1038/nature22034

humanwhole-exome sequencing

GeneticsbioRxivSep 29, 2015

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

Elise B Robinson, Beate St Pourcain, Verneri Anttila…·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.

DOI 10.1038/ng.3529

humanstatistical model

GeneticsbioRxivMar 29, 2015

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…·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.

DOI 10.1371/journal.pgen.1006121

humanwhole-exome sequencing