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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4928145

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

About this item

Full title

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Publisher

England: BioMed Central Ltd

Journal title

BMC genomics, 2016-06, Vol.17 (S2), p.444-444, Article 444

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Next generation sequencing (NGS) provides a key technology for deciphering the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens of thousands non-reference coding variants, but only one or very few are expected to be significant for the relevant disorder. In a filtering stage, one employs family segregation, rar...

Alternative Titles

Full title

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4928145

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4928145

Other Identifiers

ISSN

1471-2164

E-ISSN

1471-2164

DOI

10.1186/s12864-016-2722-2

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