Article
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
BMC bioinformatics - 1 Dec 2017
Broeckx Bart J G, Peelman Luc, Saunders Jimmy H, Deforce Dieter, Clement Lieven
Abstract excerpt
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 the variant database (called the absence-approach, i.e. it is assumed that disease-causing variants do not reside in...
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