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Items: 1 to 20 of 104

1.

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):593-8. doi: 10.1002/humu.22034. Epub 2012 Feb 24.

PMID:
22290570
2.

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.

Mutarelli M, Marwah V, Rispoli R, Carrella D, Dharmalingam G, Oliva G, di Bernardo D.

BMC Genomics. 2014;15 Suppl 3:S5. doi: 10.1186/1471-2164-15-S3-S5. Epub 2014 May 6.

3.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.

4.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R.

Genomics. 2014 Feb-Mar;103(2-3):169-76. doi: 10.1016/j.ygeno.2014.02.006. Epub 2014 Mar 3.

5.

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM.

Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22.

6.

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.

7.

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M.

Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.

8.

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW.

Circ Cardiovasc Genet. 2014 Oct;7(5):677-83. doi: 10.1161/CIRCGENETICS.114.000526. Epub 2014 Aug 1.

9.
10.

WEP: a high-performance analysis pipeline for whole-exome data.

D'Antonio M, D'Onorio De Meo P, Paoletti D, Elmi B, Pallocca M, Sanna N, Picardi E, Pesole G, Castrignanò T.

BMC Bioinformatics. 2013;14 Suppl 7:S11. doi: 10.1186/1471-2105-14-S7-S11. Epub 2013 Apr 22.

11.

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors.

Broeckx BJ, Coopman F, Verhoeven G, Bosmans T, Gielen I, Dingemanse W, Saunders JH, Deforce D, Van Nieuwerburgh F.

BMC Bioinformatics. 2015 Nov 19;16:391. doi: 10.1186/s12859-015-0822-7.

12.

PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data.

Zhang L, Zhang J, Yang J, Ying D, Lau YL, Yang W.

Bioinformatics. 2013 Jan 1;29(1):124-5. doi: 10.1093/bioinformatics/bts627. Epub 2012 Oct 25.

PMID:
23104884
13.

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.

Coutant S, Cabot C, Lefebvre A, Léonard M, Prieur-Gaston E, Campion D, Lecroq T, Dauchel H.

BMC Bioinformatics. 2012;13 Suppl 14:S9. doi: 10.1186/1471-2105-13-S14-S9. Epub 2012 Sep 7.

14.

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT.

Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29.

PMID:
23554237
15.

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.

Ramos E, Levinson BT, Chasnoff S, Hughes A, Young AL, Thornton K, Li A, Vallania FL, Province M, Druley TE.

BMC Genomics. 2012 Dec 6;13:683. doi: 10.1186/1471-2164-13-683.

16.

Improved exome prioritization of disease genes through cross-species phenotype comparison.

Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D.

Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25.

17.

Identifying Mendelian disease genes with the variant effect scoring tool.

Carter H, Douville C, Stenson PD, Cooper DN, Karchin R.

BMC Genomics. 2013;14 Suppl 3:S3. doi: 10.1186/1471-2164-14-S3-S3. Epub 2013 May 28.

18.

Olorin: combining gene flow with exome sequencing in large family studies of complex disease.

Morris JA, Barrett JC.

Bioinformatics. 2012 Dec 15;28(24):3320-1. doi: 10.1093/bioinformatics/bts609. Epub 2012 Oct 10.

19.

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.

Cleary JG, Braithwaite R, Gaastra K, Hilbush BS, Inglis S, Irvine SA, Jackson A, Littin R, Nohzadeh-Malakshah S, Rathod M, Ware D, Trigg L, De La Vega FM.

J Comput Biol. 2014 Jun;21(6):405-19. doi: 10.1089/cmb.2014.0029.

PMID:
24874280
20.

An integrative variant analysis suite for whole exome next-generation sequencing data.

Challis D, Yu J, Evani US, Jackson AR, Paithankar S, Coarfa C, Milosavljevic A, Gibbs RA, Yu F.

BMC Bioinformatics. 2012 Jan 12;13:8. doi: 10.1186/1471-2105-13-8.

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