Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar-Reference-Cited by-同舟云学术

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Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar

Published:2018-03-20 Issue:4 Volume:293 Page:919-929
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Jain Abhinav,Gandhi Shrey,Koshy Remya,Scaria Vinod

Funder

Council of Scientific and Industrial Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/article/10.1007/s00438-018-1431-8/fulltext.html

Reference48 articles.

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2. AlBakri A, Karaoui M, Alkuraya FS, Khan AO (2015) Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. J AAPOS 19:577–579

3. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O’Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP (2015) Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25:305–315

4. Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, Viklund J, Kähäri AK, Lundin P, Che H, Thutkawkorapin J, Eisfeldt J, Lampa S, Dahlberg M, Hagberg J, Jareborg N, Liljedahl U, Jonasson, Johansson Å, Feuk L, Lundeberg J, Syvänen AC, Lundin S, Nilsson D, Nystedt B, Magnusson PK, Gyllensten U (2017) SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. Eur J Hum Genet 25(11):1253–1260

5. Auton A, Abecasis GR, Altshuler DM, Durbin RM et al (2015) A global reference for human genetic variation. Nature 526(7571):68–74

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