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

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 tho...

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Bibliografiske detaljer
Udgivet i:BMC Bioinformatics
Main Authors: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7329469/
https://ncbi.nlm.nih.gov/pubmed/32611382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-020-03609-z
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