Article
Loqusdb: added value of an observations database of local genomic variation.
BMC bioinformatics - 1 Jul 2020
Magnusson Måns, Eisfeldt Jesper, Nilsson Daniel, Rosenbaum Adam, Wirta Valtteri, Lindstrand Anna, Wedell Anna, Stranneheim Henrik
Abstract excerpt
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 typically thousands of candidate variants requiring further investigation. One of the most effective and least biased ways to...
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