Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations

Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations

Abstract Background In the search for novel causal mutations, public and/or private variant databases are nearly always used to facilitate the search as they result in a massive reduction of putative variants in one step. Practically, variant filtering is often done by either using all variants from...

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Bibliographic Details
Main Authors: Bart J. G. Broeckx, Luc Peelman, Jimmy H. Saunders, Dieter Deforce, Lieven Clement
Format: Article
Language:English
Published: BMC 2017-12-01
Series:BMC Bioinformatics
Subjects:
1000 Genomes project variant database
Allele frequency
dbSNP
HapMap
Variant filtering
Variant database
Online Access:http://link.springer.com/article/10.1186/s12859-017-1951-y

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