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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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Bibliografske podrobnosti
izdano v:BMC Bioinformatics
Main Authors: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Online dostop: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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