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Items: 19

1.

Annotation of functional variation in personal genomes using RegulomeDB.

Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M.

Genome Res. 2012 Sep;22(9):1790-7. doi: 10.1101/gr.137323.112.

2.

Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression.

Li MJ, Yan B, Sham PC, Wang J.

Brief Bioinform. 2015 May;16(3):393-412. doi: 10.1093/bib/bbu018. Epub 2014 Jun 10. Review.

PMID:
24916300
3.

In Silico Functional Annotation of Genomic Variation.

Butkiewicz M, Bush WS.

Curr Protoc Hum Genet. 2016 Jan 1;88:Unit 6.15. doi: 10.1002/0471142905.hg0615s88. Review.

4.

Non-coding genetic variants in human disease.

Zhang F, Lupski JR.

Hum Mol Genet. 2015 Oct 15;24(R1):R102-10. doi: 10.1093/hmg/ddv259. Epub 2015 Jul 7. Review.

5.

Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.

Heyn H.

PLoS Genet. 2016 Mar 3;12(3):e1005826. doi: 10.1371/journal.pgen.1005826. eCollection 2016 Mar 3. Review.

6.

Molecular genetic studies of complex phenotypes.

Marian AJ.

Transl Res. 2012 Feb;159(2):64-79. doi: 10.1016/j.trsl.2011.08.001. Epub 2011 Aug 31. Review.

7.

Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.

Zhang X, Bailey SD, Lupien M.

Trends Genet. 2014 Apr;30(4):140-9. doi: 10.1016/j.tig.2014.02.006. Epub 2014 Mar 22. Review.

8.

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Cooper GM, Shendure J.

Nat Rev Genet. 2011 Aug 18;12(9):628-40. doi: 10.1038/nrg3046. Review.

PMID:
21850043
9.

The humankind genome: from genetic diversity to the origin of human diseases.

Belizário JE.

Genome. 2013 Dec;56(12):705-16. doi: 10.1139/gen-2013-0125. Review.

PMID:
24433206
10.

Databases of genomic variation and phenotypes: existing resources and future needs.

Johnston JJ, Biesecker LG.

Hum Mol Genet. 2013 Oct 15;22(R1):R27-31. doi: 10.1093/hmg/ddt384. Epub 2013 Aug 19. Review.

11.

Modelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencing.

Schmouth JF, Bonaguro RJ, Corso-Diaz X, Simpson EM.

PLoS Genet. 2012;8(3):e1002544. doi: 10.1371/journal.pgen.1002544. Epub 2012 Mar 1. Review.

12.

Towards precision medicine: advances in computational approaches for the analysis of human variants.

Peterson TA, Doughty E, Kann MG.

J Mol Biol. 2013 Nov 1;425(21):4047-63. doi: 10.1016/j.jmb.2013.08.008. Epub 2013 Aug 17. Review.

13.

Missing heritability of common diseases and treatments outside the protein-coding exome.

Sadee W, Hartmann K, Seweryn M, Pietrzak M, Handelman SK, Rempala GA.

Hum Genet. 2014 Oct;133(10):1199-215. doi: 10.1007/s00439-014-1476-7. Epub 2014 Aug 9. Review. Erratum in: Hum Genet. 2015 May;134(5):509.

14.

Functional annotation of putative regulatory elements at cancer susceptibility Loci.

Rosse SA, Auer PL, Carlson CS.

Cancer Inform. 2014 Sep 21;13(Suppl 2):5-17. doi: 10.4137/CIN.S13789. eCollection 2014 Sep 21. Review.

15.

Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.

Famiglietti ML, Estreicher A, Gos A, Bolleman J, Géhant S, Breuza L, Bridge A, Poux S, Redaschi N, Bougueleret L, Xenarios I; UniProt Consortium..

Hum Mutat. 2014 Aug;35(8):927-35. doi: 10.1002/humu.22594. Epub 2014 Jun 24. Review.

16.

Clinical analysis and interpretation of cancer genome data.

Van Allen EM, Wagle N, Levy MA.

J Clin Oncol. 2013 May 20;31(15):1825-33. doi: 10.1200/JCO.2013.48.7215. Epub 2013 Apr 15. Review.

17.

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.

Tang H, Thomas PD.

Genetics. 2016 Jun;203(2):635-47. doi: 10.1534/genetics.116.190033. Review.

PMID:
27270698
18.

Human genotype-phenotype databases: aims, challenges and opportunities.

Brookes AJ, Robinson PN.

Nat Rev Genet. 2015 Dec;16(12):702-15. doi: 10.1038/nrg3932. Epub 2015 Nov 10. Review.

PMID:
26553330
19.

Somatic cancer variant curation and harmonization through consensus minimum variant level data.

Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group..

Genome Med. 2016 Nov 4;8(1):117.

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