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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Glusman, Gustavo, Caballero, Juan, Mauldin, Denise E., Hood, Leroy, Roach, Jared C.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2011
Pynciau:
Mynediad Ar-lein: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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