Literature DB >> 30478437

Reply to 'Selective effects of heterozygous protein-truncating variants'.

Christopher A Cassa1,2,3, Donate Weghorn1,2,4, Daniel J Balick1,2, Daniel M Jordan5, David Nusinow1, Kaitlin E Samocha6,7, Anne O'Donnell-Luria6,8, Daniel G MacArthur3,6, Mark J Daly3,6, David R Beier9,10, Shamil R Sunyaev11,12,13.   

Abstract

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Year:  2019        PMID： 30478437      PMCID： PMC9196138          DOI： 10.1038/s41588-018-0301-y

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   41.307


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  6 in total

1.  The frequency distribution of lethal chromosomes in finite populations.

Authors:  M Nei
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

2.  Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Authors:  Jacob A Tennessen; Abigail W Bigham; Timothy D O'Connor; Wenqing Fu; Eimear E Kenny; Simon Gravel; Sean McGee; Ron Do; Xiaoming Liu; Goo Jun; Hyun Min Kang; Daniel Jordan; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; Goncalo Abecasis; David Altshuler; Deborah A Nickerson; Eric Boerwinkle; Shamil Sunyaev; Carlos D Bustamante; Michael J Bamshad; Joshua M Akey
Journal:  Science       Date:  2012-05-17       Impact factor: 47.728

3.  Recent explosive human population growth has resulted in an excess of rare genetic variants.

Authors:  Alon Keinan; Andrew G Clark
Journal:  Science       Date:  2012-05-11       Impact factor: 47.728

4.  Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

Authors:  Arbel Harpak; Anand Bhaskar; Jonathan K Pritchard
Journal:  PLoS Genet       Date:  2016-12-15       Impact factor: 5.917

5.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

6.  Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Authors:  Christopher A Cassa; Donate Weghorn; Daniel J Balick; Daniel M Jordan; David Nusinow; Kaitlin E Samocha; Anne O'Donnell-Luria; Daniel G MacArthur; Mark J Daly; David R Beier; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2017-04-03       Impact factor: 38.330
  6 in total
  1 in total

1.  Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans.

Authors:  Donate Weghorn; Daniel J Balick; Christopher Cassa; Jack A Kosmicki; Mark J Daly; David R Beier; Shamil R Sunyaev
Journal:  Mol Biol Evol       Date:  2019-08-01       Impact factor: 16.240
  1 in total

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