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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Publicado en:BMC Bioinformatics
Main Authors: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña: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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