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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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Bibliografische gegevens
Gepubliceerd in:BMC Bioinformatics
Hoofdauteurs: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2020
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Online toegang: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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