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Items: 10

1.

High-throughput discovery of rare insertions and deletions in large cohorts.

Vallania FL, Druley TE, Ramos E, Wang J, Borecki I, Province M, Mitra RD.

Genome Res. 2010 Dec;20(12):1711-8. doi: 10.1101/gr.109157.110. Epub 2010 Nov 1.

2.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

3.

Finding the missing heritability of complex diseases.

Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM.

Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. Review.

4.

Quantification of rare allelic variants from pooled genomic DNA.

Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD.

Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1.

5.

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP.

Nat Genet. 2008 May;40(5):592-599. doi: 10.1038/ng.118. Epub 2008 Apr 6.

6.

Medical sequencing at the extremes of human body mass.

Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA.

Am J Hum Genet. 2007 Apr;80(4):779-91. Epub 2007 Mar 5.

7.

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH.

Science. 2004 Aug 6;305(5685):869-72.

8.

Advanced sequencing technologies: methods and goals.

Shendure J, Mitra RD, Varma C, Church GM.

Nat Rev Genet. 2004 May;5(5):335-44. Review. No abstract available.

PMID:
15143316
9.

Digital genotyping and haplotyping with polymerase colonies.

Mitra RD, Butty VL, Shendure J, Williams BR, Housman DE, Church GM.

Proc Natl Acad Sci U S A. 2003 May 13;100(10):5926-31. Epub 2003 May 2.

10.

On the allelic spectrum of human disease.

Reich DE, Lander ES.

Trends Genet. 2001 Sep;17(9):502-10.

PMID:
11525833

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