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Items: 1 to 20 of 173

1.

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.

Bureau A, Younkin SG, Parker MM, Bailey-Wilson JE, Marazita ML, Murray JC, Mangold E, Albacha-Hejazi H, Beaty TH, Ruczinski I.

Bioinformatics. 2014 Aug 1;30(15):2189-96. doi: 10.1093/bioinformatics/btu198. Epub 2014 Apr 16.

2.

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, Field LL, Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH.

Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2.

3.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV.

Neurology. 2012 Jul 31;79(5):406-11. doi: 10.1212/WNL.0b013e3182616fc4. Epub 2012 Jun 27.

4.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
5.

Privacy preserving protocol for detecting genetic relatives using rare variants.

Hormozdiari F, Joo JW, Wadia A, Guan F, Ostrosky R, Sahai A, Eskin E.

Bioinformatics. 2014 Jun 15;30(12):i204-11. doi: 10.1093/bioinformatics/btu294.

6.

Whole exome association of rare deletions in multiplex oral cleft families.

Fu J, Beaty TH, Scott AF, Hetmanski J, Parker MM, Wilson JE, Marazita ML, Mangold E, Albacha-Hejazi H, Murray JC, Bureau A, Carey J, Cristiano S, Ruczinski I, Scharpf RB.

Genet Epidemiol. 2017 Jan;41(1):61-69. doi: 10.1002/gepi.22010. Epub 2016 Dec 1.

PMID:
27910131
7.

Weighted pedigree-based statistics for testing the association of rare variants.

Shugart YY, Zhu Y, Guo W, Xiong M.

BMC Genomics. 2012 Nov 24;13:667. doi: 10.1186/1471-2164-13-667.

8.

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.

Stokowy T, Garbulowski M, Fiskerstrand T, Holdhus R, Labun K, Sztromwasser P, Gilissen C, Hoischen A, Houge G, Petersen K, Jonassen I, Steen VM.

Bioinformatics. 2016 Oct 1;32(19):3018-20. doi: 10.1093/bioinformatics/btw359. Epub 2016 Jun 10.

PMID:
27288501
9.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP.

BMC Genomics. 2015 Mar 10;16:163. doi: 10.1186/s12864-015-1360-4.

10.

Multiple testing in genome-wide association studies via hidden Markov models.

Wei Z, Sun W, Wang K, Hakonarson H.

Bioinformatics. 2009 Nov 1;25(21):2802-8. doi: 10.1093/bioinformatics/btp476. Epub 2009 Aug 4.

PMID:
19654115
11.

RVFam: an R package for rare variant association analysis with family data.

Chen MH, Yang Q.

Bioinformatics. 2016 Feb 15;32(4):624-6. doi: 10.1093/bioinformatics/btv609. Epub 2015 Oct 27.

12.

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.

Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li B.

Bioinformatics. 2015 May 1;31(9):1452-9. doi: 10.1093/bioinformatics/btu860. Epub 2015 Jan 6.

13.

Incorporating linkage information into a common disease/rare variant framework.

Hinrichs AL, Suarez BK.

Genet Epidemiol. 2011;35 Suppl 1:S74-9. doi: 10.1002/gepi.20654.

14.

Shared genomic segment analysis: the power to find rare disease variants.

Knight S, Abo RP, Abel HJ, Neklason DW, Tuohy TM, Burt RW, Thomas A, Camp NJ.

Ann Hum Genet. 2012 Nov;76(6):500-9. doi: 10.1111/j.1469-1809.2012.00728.x. Epub 2012 Sep 19.

15.

HEALER: homomorphic computation of ExAct Logistic rEgRession for secure rare disease variants analysis in GWAS.

Wang S, Zhang Y, Dai W, Lauter K, Kim M, Tang Y, Xiong H, Jiang X.

Bioinformatics. 2016 Jan 15;32(2):211-8. doi: 10.1093/bioinformatics/btv563. Epub 2015 Oct 6.

16.

Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family.

Feldman GJ, Parvizi J, Levenstien M, Scott K, Erickson JA, Fortina P, Devoto M, Peters CL.

J Bone Miner Res. 2013 Dec;28(12):2540-9. doi: 10.1002/jbmr.1999.

17.

A statistical approach for rare-variant association testing in affected sibships.

Epstein MP, Duncan R, Ware EB, Jhun MA, Bielak LF, Zhao W, Smith JA, Peyser PA, Kardia SL, Satten GA.

Am J Hum Genet. 2015 Apr 2;96(4):543-54. doi: 10.1016/j.ajhg.2015.01.020. Epub 2015 Mar 19.

18.

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.

19.

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

Wu J, Li Y, Jiang R.

PLoS Genet. 2014 Mar 20;10(3):e1004237. doi: 10.1371/journal.pgen.1004237. eCollection 2014 Mar.

20.

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

Ionita-Laza I, Ottman R.

Genetics. 2011 Nov;189(3):1061-8. doi: 10.1534/genetics.111.131813. Epub 2011 Aug 11.

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