GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

被引：45

作者：

Kamphans, Tom ^{[2
]}

Krawitz, Peter M. ^{[1
]}

机构：

[1] Univ Med Berlin, Charite, Dept Med & Human Genet, D-13353 Berlin, Germany

[2] GeneTalk, D-12205 Berlin, Germany

来源：

BIOINFORMATICS | 2012年 / 28卷 / 19期

关键词：

EXOME;

D O I：

10.1093/bioinformatics/bts462

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant.

引用

页码：2515 / 2516

页数：2

共 7 条

[1] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[2] The variant call format and VCFtools [J].

Danecek, Petr ;

Auton, Adam ;

Abecasis, Goncalo ;

Albers, Cornelis A. ;

Banks, Eric ;

DePristo, Mark A. ;

Handsaker, Robert E. ;

Lunter, Gerton ;

Marth, Gabor T. ;

Sherry, Stephen T. ;

McVean, Gilean ;

Durbin, Richard .

BIOINFORMATICS, 2011, 27 (15) :2156-2158

[3] LOVD v.2.0: The Next Generation in Gene Variant Databases [J].

Fokkema, Ivo F. A. C. ;

Taschner, Peter E. M. ;

Schaafsma, Gerard C. P. ;

Celli, J. ;

Laros, Jeroen F. J. ;

den Dunnen, Johan T. .

HUMAN MUTATION, 2011, 32 (05) :557-563

[4] Strategies for exome and genome sequence data analysis in disease-gene discovery projects [J].

Robinson, P. N. ;

Krawitz, P. ;

Mundlos, S. .

CLINICAL GENETICS, 2011, 80 (02) :127-132

[5] MutationTaster evaluates disease-causing potential of sequence alterations [J].

Schwarz, Jana Marie ;

Roedelsperger, Christian ;

Schuelke, Markus ;

Seelow, Dominik .

NATURE METHODS, 2010, 7 (08) :575-576

[6] ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data [J].

Wang, Kai ;

Li, Mingyao ;

Hakonarson, Hakon .

NUCLEIC ACIDS RESEARCH, 2010, 38 (16) :e164

[7] Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease [J].

Worthey, Elizabeth A. ;

Mayer, Alan N. ;

Syverson, Grant D. ;

Helbling, Daniel ;

Bonacci, Benedetta B. ;

Decker, Brennan ;

Serpe, Jaime M. ;

Dasu, Trivikram ;

Tschannen, Michael R. ;

Veith, Regan L. ;

Basehore, Monica J. ;

Broeckel, Ulrich ;

Tomita-Mitchell, Aoy ;

Arca, Marjorie J. ;

Casper, James T. ;

Margolis, David A. ;

Bick, David P. ;

Hessner, Martin J. ;

Routes, John M. ;

Verbsky, James W. ;

Jacob, Howard J. ;

Dimmock, David P. .

GENETICS IN MEDICINE, 2011, 13 (03) :255-262

← 1 →