725 related articles for article (PubMed ID: 23990802)
1. Genic intolerance to functional variation and the interpretation of personal genomes.
Petrovski S; Wang Q; Heinzen EL; Allen AS; Goldstein DB
PLoS Genet; 2013; 9(8):e1003709. PubMed ID: 23990802
[TBL] [Abstract][Full Text] [Related]
2. GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.
Abramovs N; Brass A; Tassabehji M
Nat Genet; 2020 Jan; 52(1):35-39. PubMed ID: 31873297
[TBL] [Abstract][Full Text] [Related]
3. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
4. Discovery of mutations for Mendelian disorders.
Alkuraya FS
Hum Genet; 2016 Jun; 135(6):615-23. PubMed ID: 27068822
[TBL] [Abstract][Full Text] [Related]
5. Identifying Mendelian disease genes with the variant effect scoring tool.
Carter H; Douville C; Stenson PD; Cooper DN; Karchin R
BMC Genomics; 2013; 14 Suppl 3(Suppl 3):S3. PubMed ID: 23819870
[TBL] [Abstract][Full Text] [Related]
6. Detecting false-positive signals in exome sequencing.
Fuentes Fajardo KV; Adams D; ; Mason CE; Sincan M; Tifft C; Toro C; Boerkoel CF; Gahl W; Markello T
Hum Mutat; 2012 Apr; 33(4):609-13. PubMed ID: 22294350
[TBL] [Abstract][Full Text] [Related]
7. LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals.
Fadista J; Oskolkov N; Hansson O; Groop L
Bioinformatics; 2017 Feb; 33(4):471-474. PubMed ID: 27563026
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL; Fakhro K; Hackett NR; Salit J; Fuller J; Agosto-Perez F; Gharbiah M; Malek JA; Zirie M; Jayyousi A; Badii R; Al-Nabet Al-Marri A; Chouchane L; Stadler DJ; Mezey JG; Crystal RG
Hum Mutat; 2014 Jan; 35(1):105-16. PubMed ID: 24123366
[TBL] [Abstract][Full Text] [Related]
9. The human gene damage index as a gene-level approach to prioritizing exome variants.
Itan Y; Shang L; Boisson B; Patin E; Bolze A; Moncada-Vélez M; Scott E; Ciancanelli MJ; Lafaille FG; Markle JG; Martinez-Barricarte R; de Jong SJ; Kong XF; Nitschke P; Belkadi A; Bustamante J; Puel A; Boisson-Dupuis S; Stenson PD; Gleeson JG; Cooper DN; Quintana-Murci L; Claverie JM; Zhang SY; Abel L; Casanova JL
Proc Natl Acad Sci U S A; 2015 Nov; 112(44):13615-20. PubMed ID: 26483451
[TBL] [Abstract][Full Text] [Related]
10. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Ruderfer DM; Hamamsy T; Lek M; Karczewski KJ; Kavanagh D; Samocha KE; ; Daly MJ; MacArthur DG; Fromer M; Purcell SM
Nat Genet; 2016 Oct; 48(10):1107-11. PubMed ID: 27533299
[TBL] [Abstract][Full Text] [Related]
11. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.
Gussow AB; Petrovski S; Wang Q; Allen AS; Goldstein DB
Genome Biol; 2016 Jan; 17():9. PubMed ID: 26781712
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X; Petrovski S; Xie P; Ruzzo EK; Lu YF; McSweeney KM; Ben-Zeev B; Nissenkorn A; Anikster Y; Oz-Levi D; Dhindsa RS; Hitomi Y; Schoch K; Spillmann RC; Heimer G; Marek-Yagel D; Tzadok M; Han Y; Worley G; Goldstein J; Jiang YH; Lancet D; Pras E; Shashi V; McHale D; Need AC; Goldstein DB
Genet Med; 2015 Oct; 17(10):774-81. PubMed ID: 25590979
[TBL] [Abstract][Full Text] [Related]
14. Survey of variation in human transcription factors reveals prevalent DNA binding changes.
Barrera LA; Vedenko A; Kurland JV; Rogers JM; Gisselbrecht SS; Rossin EJ; Woodard J; Mariani L; Kock KH; Inukai S; Siggers T; Shokri L; Gordân R; Sahni N; Cotsapas C; Hao T; Yi S; Kellis M; Daly MJ; Vidal M; Hill DE; Bulyk ML
Science; 2016 Mar; 351(6280):1450-1454. PubMed ID: 27013732
[TBL] [Abstract][Full Text] [Related]
15. Genetic variation in an individual human exome.
Ng PC; Levy S; Huang J; Stockwell TB; Walenz BP; Li K; Axelrod N; Busam DA; Strausberg RL; Venter JC
PLoS Genet; 2008 Aug; 4(8):e1000160. PubMed ID: 18704161
[TBL] [Abstract][Full Text] [Related]
16. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Fairfield H; Srivastava A; Ananda G; Liu R; Kircher M; Lakshminarayana A; Harris BS; Karst SY; Dionne LA; Kane CC; Curtain M; Berry ML; Ward-Bailey PF; Greenstein I; Byers C; Czechanski A; Sharp J; Palmer K; Gudis P; Martin W; Tadenev A; Bogdanik L; Pratt CH; Chang B; Schroeder DG; Cox GA; Cliften P; Milbrandt J; Murray S; Burgess R; Bergstrom DE; Donahue LR; Hamamy H; Masri A; Santoni FA; Makrythanasis P; Antonarakis SE; Shendure J; Reinholdt LG
Genome Res; 2015 Jul; 25(7):948-57. PubMed ID: 25917818
[TBL] [Abstract][Full Text] [Related]
17. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R; Thomson KL; Ware JS; Funke BH; Woodley J; McGuire KJ; Mazzarotto F; Blair E; Seller A; Taylor JC; Minikel EV; Exome Aggregation Consortium ; MacArthur DG; Farrall M; Cook SA; Watkins H
Genet Med; 2017 Feb; 19(2):192-203. PubMed ID: 27532257
[TBL] [Abstract][Full Text] [Related]
18. Genetic intolerance analysis as a tool for protein science.
Li GC; Forster-Benson ETC; Sanders CR
Biochim Biophys Acta Biomembr; 2020 Jan; 1862(1):183058. PubMed ID: 31494120
[TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
20. Revealing the human mutome.
Chen JM; Férec C; Cooper DN
Clin Genet; 2010 Oct; 78(4):310-20. PubMed ID: 20569258
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]