Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

被引：27

作者：

Sifrim, Alejandro ^{[1
,2
]}

Van Houdt, Jeroen K. J. ^{[3
]}

Tranchevent, Leon-Charles ^{[1
,2
]}

Nowakowska, Beata ^{[3
]}

Sakai, Ryo ^{[1
,2
]}

Pavlopoulos, Georgios A. ^{[1
,2
]}

Devriendt, Koen ^{[3
]}

Vermeesch, Joris R. ^{[3
]}

Moreau, Yves ^{[1
,2
]}

Aerts, Jan ^{[1
,2
]}

机构：

[1] Katholieke Univ Leuven, Dept Elect Engn ESAT, SCD SISTA, B-3001 Louvain, Belgium

[2] IBBT Future Hlth Dept, B-3001 Louvain, Belgium

[3] Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium

来源：

GENOME MEDICINE | 2012年 / 4卷

关键词：

NICOLAIDES-BARAITSER SYNDROME; COFFIN-SIRIS SYNDROME; SEQUENCING DATA; FUNCTIONAL ANNOTATION; MENTAL-RETARDATION; MISSENSE MUTATIONS; GENOMIC VARIANTS; HUMAN EXOMES; LARGE-SCALE; DATABASE;

D O I：

10.1186/gm374

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering existing knowledge concerning the phenotype. We describe a methodology that facilitates exploration of patient sequencing data towards identification of causal variants under different genetic hypotheses. Annotate-it facilitates handling, analysis and interpretation of high-throughput single nucleotide variant data. We demonstrate our strategy using three case studies. Annotate-it is freely available and test data are accessible to all users at http://www.annotate-it.org.

引用

页数：12

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