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Kaviar: an accessible system for testing SNV novelty

Summary: With the rapidly expanding availability of data from personal genomes, exomes and transcriptomes, medical researchers will frequently need to test whether observed genomic variants are novel or known. This task requires downloading and handling large and diverse datasets from a variety of s...

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Autors principals: Glusman, Gustavo, Caballero, Juan, Mauldin, Denise E., Hood, Leroy, Roach, Jared C.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208392/
https://ncbi.nlm.nih.gov/pubmed/21965822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btr540
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