Ensembl variation resources.
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ABSTRACT:
SUBMITTER: Hunt SE
PROVIDER: S-EPMC6310513 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
Ensembl variation resources.
Hunt Sarah E SE McLaren William W Gil Laurent L Thormann Anja A Schuilenburg Helen H Sheppard Dan D Parton Andrew A Armean Irina M IM Trevanion Stephen J SJ Flicek Paul P Cunningham Fiona F
Database : the journal of biological databases and curation 20180101
The major goal of sequencing humans and many other species is to understand the link between genomic variation, phenotype and disease. There are numerous valuable and well-established variation resources, but collating and making sense of non-homogeneous, often large-scale data sets from disparate sources remains a challenge. Without a systematic catalogue of these data and appropriate query and annotation tools, understanding the genome sequence of an individual and assessing their disease risk ...[more]
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