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Items: 1 to 20 of 95

1.

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

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium.

Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.

2.

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE.

Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7.

3.

Diagnosing rare diseases after the exome.

Frésard L, Montgomery SB.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003392. doi: 10.1101/mcs.a003392. Print 2018 Dec. Review.

4.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

5.

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS.

Genet Med. 2017 Oct;19(10):1151-1158. doi: 10.1038/gim.2017.26. Epub 2017 May 18.

6.

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K, Wiskin AE, Gibson J, Tapper W, Willis C, Afzal NA, Upstill-Goddard R, Holloway JW, Simpson MA, Beattie RM, Collins A, Ennis S.

Gut. 2013 Jul;62(7):977-84. doi: 10.1136/gutjnl-2011-301833. Epub 2012 Apr 28.

7.

A global reference for human genetic variation.

1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

8.

ExAC project pins down rare gene variants.

[No authors listed]

Nature. 2016 Aug 18;536(7616):249. doi: 10.1038/536249a. No abstract available.

PMID:
27535499
9.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.

JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.

PMID:
28097321
10.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

11.

Exome-based proteogenomics of HEK-293 human cell line: Coding genomic variants identified at the level of shotgun proteome.

Lobas AA, Karpov DS, Kopylov AT, Solovyeva EM, Ivanov MV, Ilina IY, Lazarev VN, Kuznetsova KG, Ilgisonis EV, Zgoda VG, Gorshkov MV, Moshkovskii SA.

Proteomics. 2016 Jul;16(14):1980-91. doi: 10.1002/pmic.201500349. Epub 2016 Jun 21. Erratum in: Proteomics. 2016 Aug;16(15-16):2302.

PMID:
27233776
12.

FLAGS, frequently mutated genes in public exomes.

Shyr C, Tarailo-Graovac M, Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW.

BMC Med Genomics. 2014 Dec 3;7:64. doi: 10.1186/s12920-014-0064-y. Erratum in: BMC Med Genomics. 2017 Nov 29;10 (1):69.

13.

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL, Arkader A, Voight BF, Pacifici M, Grant SFA.

Bone. 2016 Nov;92:196-200. doi: 10.1016/j.bone.2016.09.005. Epub 2016 Sep 9.

14.

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.

Kalsner L, Twachtman-Bassett J, Tokarski K, Stanley C, Dumont-Mathieu T, Cotney J, Chamberlain S.

Mol Genet Genomic Med. 2018 Mar;6(2):171-185. doi: 10.1002/mgg3.354. Epub 2017 Dec 21.

15.

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM.

Hum Mutat. 2018 Feb;39(2):197-201. doi: 10.1002/humu.23374. Epub 2017 Dec 14.

PMID:
29193559
16.

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M.

Neurobiol Aging. 2016 Jan;37:208.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30.

PMID:
26522186
17.

Semantic prioritization of novel causative genomic variants.

Boudellioua I, Mahamad Razali RB, Kulmanov M, Hashish Y, Bajic VB, Goncalves-Serra E, Schoenmakers N, Gkoutos GV, Schofield PN, Hoehndorf R.

PLoS Comput Biol. 2017 Apr 17;13(4):e1005500. doi: 10.1371/journal.pcbi.1005500. eCollection 2017 Apr.

18.

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ, Berg JN, Zhou K, Palmer CNA, Thakker RV.

J Endocr Soc. 2017 Nov 15;1(12):1507-1526. doi: 10.1210/js.2017-00330. eCollection 2017 Dec 1.

19.

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.

Bahcall OG.

Nat Rev Genet. 2016 Sep 15;17(10):584. doi: 10.1038/nrg.2016.121. No abstract available.

PMID:
27629930
20.

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

Cardinale CJ, Li D, Tian L, Connolly JJ, March ME, Hou C, Wang F, Snyder J, Kim CE, Chiavacci RM, Sleiman PM, Burnham JM, Hakonarson H.

BMC Musculoskelet Disord. 2016 Nov 9;17(1):462.

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