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Items: 1 to 20 of 82

1.

Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.

Crockett DK, Lyon E, Williams MS, Narus SP, Facelli JC, Mitchell JA.

J Am Med Inform Assoc. 2012 Mar-Apr;19(2):207-11. doi: 10.1136/amiajnl-2011-000309. Epub 2011 Oct 28.

2.

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.

Manrai AK, Wang BL, Patel CJ, Kohane IS.

Pac Symp Biocomput. 2016;21:231-42.

3.

Minimalist ensemble algorithms for genome-wide protein localization prediction.

Lin JR, Mondal AM, Liu R, Hu J.

BMC Bioinformatics. 2012 Jul 3;13:157. doi: 10.1186/1471-2105-13-157.

4.

Speeding disease gene discovery by sequence based candidate prioritization.

Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS.

BMC Bioinformatics. 2005 Mar 14;6:55.

5.

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS.

BMC Bioinformatics. 2010 Feb 4;11:74. doi: 10.1186/1471-2105-11-74.

6.

Inferring disease and gene set associations with rank coherence in networks.

Hwang T, Zhang W, Xie M, Liu J, Kuang R.

Bioinformatics. 2011 Oct 1;27(19):2692-9. doi: 10.1093/bioinformatics/btr463. Epub 2011 Aug 8.

PMID:
21824970
7.

Outcome prediction based on microarray analysis: a critical perspective on methods.

Zervakis M, Blazadonakis ME, Tsiliki G, Danilatou V, Tsiknakis M, Kafetzopoulos D.

BMC Bioinformatics. 2009 Feb 7;10:53. doi: 10.1186/1471-2105-10-53.

8.

A comprehensive comparison of random forests and support vector machines for microarray-based cancer classification.

Statnikov A, Wang L, Aliferis CF.

BMC Bioinformatics. 2008 Jul 22;9:319. doi: 10.1186/1471-2105-9-319.

9.

In silico gene discovery.

Yu B.

Methods Mol Med. 2008;141:1-22. Review.

PMID:
18453081
10.

Incremental fuzzy mining of gene expression data for gene function prediction.

Ma PC, Chan KC.

IEEE Trans Biomed Eng. 2011 May;58(5):1246-52. doi: 10.1109/TBME.2010.2047724. Epub 2010 Apr 15.

PMID:
20403777
11.

Guidelines for reporting and using prediction tools for genetic variation analysis.

Vihinen M.

Hum Mutat. 2013 Feb;34(2):275-82. doi: 10.1002/humu.22253. Epub 2013 Jan 18.

PMID:
23169447
12.

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee..

Am J Hum Genet. 2004 Oct;75(4):535-44. Epub 2004 Aug 2.

13.

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP, McLaughlin RL, Hardiman O, Bradley DG.

Hum Mutat. 2013 Jun;34(6):836-41. doi: 10.1002/humu.22303. Epub 2013 Mar 26.

PMID:
23447461
14.

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.

15.

Sensitive and accurate detection of copy number variants using read depth of coverage.

Yoon S, Xuan Z, Makarov V, Ye K, Sebat J.

Genome Res. 2009 Sep;19(9):1586-92. doi: 10.1101/gr.092981.109. Epub 2009 Aug 5.

16.

Rapid annotation of anonymous sequences from genome projects using semantic similarities and a weighting scheme in gene ontology.

Fontana P, Cestaro A, Velasco R, Formentin E, Toppo S.

PLoS One. 2009;4(2):e4619. doi: 10.1371/journal.pone.0004619. Epub 2009 Feb 27.

17.

Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

Stanley CM, Sunyaev SR, Greenblatt MS, Oetting WS.

Hum Mutat. 2014 Apr;35(4):505-10. doi: 10.1002/humu.22516.

PMID:
24470180
18.

Developing a DNA variant database.

Fung DC.

Methods Mol Med. 2008;141:219-43.

PMID:
18453092
19.

A classification-based prediction model of messenger RNA polyadenylation sites.

Ji G, Wu X, Shen Y, Huang J, Quinn Li Q.

J Theor Biol. 2010 Aug 7;265(3):287-96. doi: 10.1016/j.jtbi.2010.05.015. Epub 2010 May 26.

PMID:
20546757
20.

Integrating alternative splicing detection into gene prediction.

Foissac S, Schiex T.

BMC Bioinformatics. 2005 Feb 10;6:25.

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