Loqusdb: added value of an observations database of local genomic variation

Loqusdb: added value of an observations database of local genomic variation

Abstract Background Exome and genome sequencing is becoming the method of choice for rare disease diagnostics. One of the key challenges remaining is distinguishing the disease causing variants from the benign background variation. After analysis and annotation of the sequencing data there are typic...

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Bibliographic Details
Main Authors: Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Bioinformatics
Subjects:
Genomics
Rare disease
Mendelian
Single nucleotide variant
Structural variant
Population frequency
Online Access:http://link.springer.com/article/10.1186/s12859-020-03609-z

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http://link.springer.com/article/10.1186/s12859-020-03609-z

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