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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Detalles Bibliográficos
Autores principales: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329469/
https://www.ncbi.nlm.nih.gov/pubmed/32611382
http://dx.doi.org/10.1186/s12859-020-03609-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329469/
https://www.ncbi.nlm.nih.gov/pubmed/32611382
http://dx.doi.org/10.1186/s12859-020-03609-z

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