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Items: 1 to 20 of 128

1.

Incorporating model uncertainty in detecting rare variants: the Bayesian risk index.

Quintana MA, Berstein JL, Thomas DC, Conti DV.

Genet Epidemiol. 2011 Nov;35(7):638-49. doi: 10.1002/gepi.20613. Epub 2011 Aug 26.

2.

Incorporating prior biologic information for high-dimensional rare variant association studies.

Quintana MA, Schumacher FR, Casey G, Bernstein JL, Li L, Conti DV.

Hum Hered. 2012;74(3-4):184-95. doi: 10.1159/000346021. Epub 2013 Apr 11.

3.

Hierarchical Bayesian model for rare variant association analysis integrating genotype uncertainty in human sequence data.

He L, Pitkäniemi J, Sarin AP, Salomaa V, Sillanpää MJ, Ripatti S.

Genet Epidemiol. 2015 Feb;39(2):89-100. doi: 10.1002/gepi.21871. Epub 2014 Nov 13.

PMID:
25395270
5.

False discovery rates for rare variants from sequenced data.

Capanu M, Seshan VE.

Genet Epidemiol. 2015 Feb;39(2):65-76. doi: 10.1002/gepi.21880. Epub 2014 Dec 30.

6.

A variational Bayes discrete mixture test for rare variant association.

Logsdon BA, Dai JY, Auer PL, Johnsen JM, Ganesh SK, Smith NL, Wilson JG, Tracy RP, Lange LA, Jiao S, Rich SS, Lettre G, Carlson CS, Jackson RD, O'Donnell CJ, Wurfel MM, Nickerson DA, Tang H, Reiner AP, Kooperberg C; NHLBI GO Exome Sequencing Project.

Genet Epidemiol. 2014 Jan;38(1):21-30.

7.

Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.

Kinnamon DD, Hershberger RE, Martin ER.

PLoS One. 2012;7(2):e30238. doi: 10.1371/journal.pone.0030238. Epub 2012 Feb 17.

8.

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

Capanu M, Concannon P, Haile RW, Bernstein L, Malone KE, Lynch CF, Liang X, Teraoka SN, Diep AT, Thomas DC, Bernstein JL; WECARE Study Collaborative Group, Begg CB.

Genet Epidemiol. 2011 Jul;35(5):389-97. doi: 10.1002/gepi.20587. Epub 2011 Apr 25.

9.

A powerful association test of multiple genetic variants using a random-effects model.

Cheng KF, Lee JY, Zheng W, Li C.

Stat Med. 2014 May 20;33(11):1816-27. doi: 10.1002/sim.6068. Epub 2013 Dec 16.

10.

Dynamic Bayesian testing of sets of variants in complex diseases.

Zhang Y, Ghosh S, Hakonarson H.

Genetics. 2014 Nov;198(3):867-78. doi: 10.1534/genetics.114.167403. Epub 2014 Sep 11.

11.

Robust and Powerful Affected Sibpair Test for Rare Variant Association.

Lin KH, Zöllner S.

Genet Epidemiol. 2015 Jul;39(5):325-33. doi: 10.1002/gepi.21903. Epub 2015 May 13.

12.

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, dos Santos Silva I, McCormack V, Gibson L, Fraser A, Leonard A, Gilham C, Tavtigian SV, Ashworth A, Houlston R, Peto J.

Hum Mol Genet. 2007 May 1;16(9):1051-7. Epub 2007 Mar 6.

PMID:
17341484
13.

Genetic variants and haplotype analyses of the ZBRK1/ZNF350 gene in high-risk non BRCA1/2 French Canadian breast and ovarian cancer families.

Desjardins S, Belleau P, Labrie Y, Ouellette G, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Pichette R, Plante M; INHERIT BRCAs, Durocher F.

Int J Cancer. 2008 Jan 1;122(1):108-16.

14.

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Consortium FE, Schott JJ, Redon R, Bellanger L, Dina C.

PLoS One. 2017 Jul 24;12(7):e0179364. doi: 10.1371/journal.pone.0179364. eCollection 2017.

15.

A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.

Cheung YH, Wang G, Leal SM, Wang S.

Genet Epidemiol. 2012 Nov;36(7):675-85. doi: 10.1002/gepi.21662. Epub 2012 Aug 3.

PMID:
22865616
16.

Detecting disease association signals with multiple genetic variants and covariates.

Cheng KF, Lee JY.

Stat Methods Med Res. 2017 Jun;26(3):1281-1294. doi: 10.1177/0962280215574541. Epub 2015 Mar 2.

PMID:
25733545
17.

A unified mixed-effects model for rare-variant association in sequencing studies.

Sun J, Zheng Y, Hsu L.

Genet Epidemiol. 2013 May;37(4):334-44. doi: 10.1002/gepi.21717. Epub 2013 Mar 9.

18.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A.

Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
19.

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.

20.

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

Gómez García EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FB, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ, Ausems MG, van Os TA, van der Hout AH, Ligtenberg M, van den Ouweland A, van der Luijt RB, Wijnen JT, Gille JJ, Lindsey PJ, Devilee P, Blok MJ, Vreeswijk MP.

Breast Cancer Res. 2009;11(1):R8. doi: 10.1186/bcr2223. Epub 2009 Feb 6.

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