Karchin R - Search Results

1

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Douville C, Masica DL, Stenson PD, Cooper DN, Gygax DM, Kim R, Ryan M, Karchin R. Douville C, et al. Among authors: karchin r. Hum Mutat. 2016 Jan;37(1):28-35. doi: 10.1002/humu.22911. Epub 2015 Oct 26. Hum Mutat. 2016. PMID: 26442818 Free PMC article.

2

LS-SNP/PDB: annotated non-synonymous SNPs mapped to Protein Data Bank structures.

Ryan M, Diekhans M, Lien S, Liu Y, Karchin R. Ryan M, et al. Among authors: karchin r. Bioinformatics. 2009 Jun 1;25(11):1431-2. doi: 10.1093/bioinformatics/btp242. Epub 2009 Apr 15. Bioinformatics. 2009. PMID: 19369493 Free PMC article.

3

Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival.

Masica DL, Karchin R. Masica DL, et al. Among authors: karchin r. Cancer Res. 2011 Jul 1;71(13):4550-61. doi: 10.1158/0008-5472.CAN-11-0180. Epub 2011 May 9. Cancer Res. 2011. PMID: 21555372 Free PMC article.

4

CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer.

Wong WC, Kim D, Carter H, Diekhans M, Ryan MC, Karchin R. Wong WC, et al. Among authors: karchin r. Bioinformatics. 2011 Aug 1;27(15):2147-8. doi: 10.1093/bioinformatics/btr357. Epub 2011 Jun 17. Bioinformatics. 2011. PMID: 21685053 Free PMC article.

5

Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Masica DL, Sosnay PR, Cutting GR, Karchin R. Masica DL, et al. Among authors: karchin r. Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22573477 Free PMC article.

6

CRAVAT: cancer-related analysis of variants toolkit.

Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD, Cooper DN, Ryan M, Karchin R. Douville C, et al. Among authors: karchin r. Bioinformatics. 2013 Mar 1;29(5):647-8. doi: 10.1093/bioinformatics/btt017. Epub 2013 Jan 16. Bioinformatics. 2013. PMID: 23325621 Free PMC article.

7

Collections of simultaneously altered genes as biomarkers of cancer cell drug response.

Masica DL, Karchin R. Masica DL, et al. Among authors: karchin r. Cancer Res. 2013 Mar 15;73(6):1699-708. doi: 10.1158/0008-5472.CAN-12-3122. Epub 2013 Jan 21. Cancer Res. 2013. PMID: 23338612 Free PMC article.

8

MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.

Niknafs N, Kim D, Kim R, Diekhans M, Ryan M, Stenson PD, Cooper DN, Karchin R. Niknafs N, et al. Among authors: karchin r. Hum Genet. 2013 Nov;132(11):1235-43. doi: 10.1007/s00439-013-1325-0. Epub 2013 Jun 23. Hum Genet. 2013. PMID: 23793516 Free PMC article.

9

Identifying Mendelian disease genes with the variant effect scoring tool.

Carter H, Douville C, Stenson PD, Cooper DN, Karchin R. Carter H, et al. Among authors: karchin r. BMC Genomics. 2013;14 Suppl 3(Suppl 3):S3. doi: 10.1186/1471-2164-14-S3-S3. Epub 2013 May 28. BMC Genomics. 2013. PMID: 23819870 Free PMC article.

10

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing.

Hoang ML, Chen CH, Sidorenko VS, He J, Dickman KG, Yun BH, Moriya M, Niknafs N, Douville C, Karchin R, Turesky RJ, Pu YS, Vogelstein B, Papadopoulos N, Grollman AP, Kinzler KW, Rosenquist TA. Hoang ML, et al. Among authors: karchin r. Sci Transl Med. 2013 Aug 7;5(197):197ra102. doi: 10.1126/scitranslmed.3006200. Sci Transl Med. 2013. PMID: 23926200 Free PMC article.

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