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Items: 1 to 20 of 56

1.

Deep resequencing reveals excess rare recent variants consistent with explosive population growth.

Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H, Cree A, Hawes AC, Newsham I, Varghese RT, Villasana D, Gross S, Joshi V, Santibanez J, Morgan M, Chang K, Iv WH, Templeton AR, Boerwinkle E, Gibbs R, Sing CF.

Nat Commun. 2010 Nov 30;1:131.

2.

Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation.

Kim Y, Suktitipat B, Yanek LR, Faraday N, Wilson AF, Becker DM, Becker LC, Mathias RA.

PLoS One. 2013 May 21;8(5):e64179. doi: 10.1371/journal.pone.0064179. Print 2013.

3.

Resequencing three candidate genes discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese.

Rao S, Leung CS, Lam MH, Wing YK, Waye MM, Tsui SK.

Gene. 2017 Mar 1;603:34-41. doi: 10.1016/j.gene.2016.12.006. Epub 2016 Dec 10.

PMID:
27964944
4.

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

Keinan A, Clark AG.

Science. 2012 May 11;336(6082):740-3. doi: 10.1126/science.1217283.

5.

Resequencing candidate genes implicates rare variants in asthma susceptibility.

Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C.

Am J Hum Genet. 2012 Feb 10;90(2):273-81. doi: 10.1016/j.ajhg.2012.01.008.

6.

Full-exon resequencing reveals toll-like receptor variants contribute to human susceptibility to tuberculosis disease.

Ma X, Liu Y, Gowen BB, Graviss EA, Clark AG, Musser JM.

PLoS One. 2007 Dec 19;2(12):e1318.

7.

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.

Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ.

BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65.

8.

Presence of epilepsy-associated variants in large exome databases.

Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG.

J Neurogenet. 2013 Jun;27(1-2):1-4. doi: 10.3109/01677063.2013.772176. Epub 2013 Mar 25.

9.

How important are rare variants in common disease?

Saint Pierre A, Génin E.

Brief Funct Genomics. 2014 Sep;13(5):353-61. doi: 10.1093/bfgp/elu025. Epub 2014 Jul 8.

PMID:
25005607
10.

Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study.

Bowden DW, An SS, Palmer ND, Brown WM, Norris JM, Haffner SM, Hawkins GA, Guo X, Rotter JI, Chen YD, Wagenknecht LE, Langefeld CD.

Hum Mol Genet. 2010 Oct 15;19(20):4112-20. doi: 10.1093/hmg/ddq327. Epub 2010 Aug 5.

11.

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH, Cohen JC.

Nat Genet. 2007 Apr;39(4):513-6. Epub 2007 Feb 25.

12.

Demographic history and rare allele sharing among human populations.

Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA; 1000 Genomes Project, Bustamante CD.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11983-8. doi: 10.1073/pnas.1019276108. Epub 2011 Jul 5.

13.

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus.

Dodd AW, Rodriguez-Fontenla C, Calaza M, Carr A, Gomez-Reino JJ, Tsezou A, Reynard LN, Gonzalez A, Loughlin J.

Osteoarthritis Cartilage. 2011 Apr;19(4):430-4. doi: 10.1016/j.joca.2011.01.014. Epub 2011 Jan 31.

14.

Explosive genetic evidence for explosive human population growth.

Gao F, Keinan A.

Curr Opin Genet Dev. 2016 Dec;41:130-139. doi: 10.1016/j.gde.2016.09.002. Epub 2016 Oct 4. Review.

15.

Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility.

Haller G, Torgerson DG, Ober C, Thompson EE.

J Allergy Clin Immunol. 2009 Dec;124(6):1204-9.e9. doi: 10.1016/j.jaci.2009.09.013.

16.

Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants.

Hong SN, Park C, Park SJ, Lee CK, Ye BD, Kim YS, Lee S, Chae J, Kim JI, Kim YH; IBD Study Group of the Korean Association for the Study of Intestinal Diseases (KASID).

Gut. 2016 May;65(5):788-96. doi: 10.1136/gutjnl-2014-308617. Epub 2015 Mar 2.

PMID:
25731871
17.

Resequencing of pooled DNA for detecting disease associations with rare variants.

Wang T, Lin CY, Rohan TE, Ye K.

Genet Epidemiol. 2010 Jul;34(5):492-501. doi: 10.1002/gepi.20502.

18.

Illumina sequencing of 15 deafness genes using fragmented amplicons.

Van Nieuwerburgh F, De Keulenaer S, De Schrijver J, Vandesompele J, Van Criekinge W, Coucke PJ, Deforce D.

BMC Res Notes. 2014 Aug 9;7:509. doi: 10.1186/1756-0500-7-509.

19.

Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.

Grarup N, Rose CS, Andersson EA, Andersen G, Nielsen AL, Albrechtsen A, Clausen JO, Rasmussen SS, Jørgensen T, Sandbaek A, Lauritzen T, Schmitz O, Hansen T, Pedersen O.

Diabetes. 2007 Dec;56(12):3105-11. Epub 2007 Sep 7.

20.

Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

Matullo G, Di Gaetano C, Guarrera S.

Environ Mol Mutagen. 2013 Aug;54(7):518-32. doi: 10.1002/em.21799. Epub 2013 Aug 6. Review.

PMID:
23922201

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