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Results: 1 to 20 of 92

1.

An informatics approach to analyzing the incidentalome.

Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP.

Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.

PMID:
22995991
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Revealing the human mutome.

Chen JM, Férec C, Cooper DN.

Clin Genet. 2010 Oct;78(4):310-20. doi: 10.1111/j.1399-0004.2010.01474.x. Review.

PMID:
20569258
[PubMed - indexed for MEDLINE]
3.

A unified approach for allele frequency estimation, SNP detection and association studies based on pooled sequencing data using EM algorithms.

Chen Q, Sun F.

BMC Genomics. 2013;14 Suppl 1:S1. doi: 10.1186/1471-2164-14-S1-S1. Epub 2013 Jan 21.

PMID:
23369070
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Advances in understanding cancer genomes through second-generation sequencing.

Meyerson M, Gabriel S, Getz G.

Nat Rev Genet. 2010 Oct;11(10):685-96. doi: 10.1038/nrg2841. Review.

PMID:
20847746
[PubMed - indexed for MEDLINE]
5.

Prioritizing GWAS results: A review of statistical methods and recommendations for their application.

Cantor RM, Lange K, Sinsheimer JS.

Am J Hum Genet. 2010 Jan;86(1):6-22. doi: 10.1016/j.ajhg.2009.11.017. Review.

PMID:
20074509
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Detecting disease-causing mutations in the human genome by haplotype matching.

Spencer DH, Bubb KL, Olson MV.

Am J Hum Genet. 2006 Nov;79(5):958-64. Epub 2006 Sep 25.

PMID:
17033972
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

INTERSNP: genome-wide interaction analysis guided by a priori information.

Herold C, Steffens M, Brockschmidt FF, Baur MP, Becker T.

Bioinformatics. 2009 Dec 15;25(24):3275-81. doi: 10.1093/bioinformatics/btp596. Epub 2009 Oct 16.

PMID:
19837719
[PubMed - indexed for MEDLINE]
Free Article
8.

What can exome sequencing do for you?

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N.

J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. Review.

PMID:
21730106
[PubMed - indexed for MEDLINE]
9.

Data simulation software for whole-genome association and other studies in human genetics.

Dudek SM, Motsinger AA, Velez DR, Williams SM, Ritchie MD.

Pac Symp Biocomput. 2006:499-510.

PMID:
17094264
[PubMed - indexed for MEDLINE]
Free Article
10.

A new permutation strategy of pathway-based approach for genome-wide association study.

Guo YF, Li J, Chen Y, Zhang LS, Deng HW.

BMC Bioinformatics. 2009 Dec 18;10:429. doi: 10.1186/1471-2105-10-429.

PMID:
20021635
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[Clinical use of the analysis of the entire genome].

Cornel MC, de Wert G, Meijers-Heijboer H.

Ned Tijdschr Geneeskd. 2011;155:A2847. Dutch.

PMID:
21262012
[PubMed - indexed for MEDLINE]
12.

Ethical and legal implications of whole genome and whole exome sequencing in African populations.

Wright GE, Koornhof PG, Adeyemo AA, Tiffin N.

BMC Med Ethics. 2013 May 28;14:21. doi: 10.1186/1472-6939-14-21.

PMID:
23714101
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Broadening research consent in the era of genome-informed medicine.

Kronenthal C, Delaney SK, Christman MF.

Genet Med. 2012 Apr;14(4):432-6. doi: 10.1038/gim.2011.76. Epub 2012 Mar 15.

PMID:
22422050
[PubMed - indexed for MEDLINE]
14.

Taxonomizing, sizing, and overcoming the incidentalome.

Kohane IS, Hsing M, Kong SW.

Genet Med. 2012 Apr;14(4):399-404. doi: 10.1038/gim.2011.68. Epub 2012 Feb 9.

PMID:
22323072
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN.

Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28.

PMID:
21278187
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Improved detection of rare genetic variants for diseases.

Zhang L, Pei YF, Li J, Papasian CJ, Deng HW.

PLoS One. 2010 Nov 8;5(11):e13857. doi: 10.1371/journal.pone.0013857.

PMID:
21079782
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.

Johnson AD, Bhimavarapu A, Benjamin EJ, Fox C, Levy D, Jarvik GP, O'Donnell CJ.

Genet Med. 2010 Jun;12(6):355-63. doi: 10.1097/GIM.0b013e3181e1e2a9.

PMID:
20556870
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.

PMID:
19861545
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical genomic database.

Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG.

Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9851-5. doi: 10.1073/pnas.1302575110. Epub 2013 May 21.

PMID:
23696674
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Next-generation association studies for complex traits.

Zeggini E.

Nat Genet. 2011 Mar 29;43(4):287-8. doi: 10.1038/ng0411-287.

PMID:
21445070
[PubMed - indexed for MEDLINE]
Free PMC Article

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