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SPDI: Data Model for Variants and Applications at NCBI

Bioinformatics

Nov 18, 2019

J. Bradley HolmesBrandi L. Kattman

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Abstract

Normalizing sequence variants on a reference, projecting them across congruent sequences, and aggregating their diverse representations are critical to the elucidation of the genetic basis of disease and biological function. Inconsistent representation of variants among variant callers,...read more

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Alleles
DiGeorge Syndrome
Gene Deletion
Health Services
Methylnitronitrosoguanidine
Nucleotides
Protein Isoforms
Gene Mutant
Positioning Attribute
Amino-terminal pro-brain natriuretic peptide
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SPDI: Data Model for Variants and Applications at NCBI

Bioinformatics

Nov 18, 2019

J. Bradley HolmesBrandi L. Kattman

PMID: 31738401

DOI: 10.1093/bioinformatics/btz856

Abstract

Normalizing sequence variants on a reference, projecting them across congruent sequences, and aggregating their diverse representations are critical to the elucidation of the genetic basis of disease and biological function. Inconsistent representation of variants among variant callers,...read more

Mentioned in this Paper

Alleles
DiGeorge Syndrome
Gene Deletion
Health Services
Methylnitronitrosoguanidine
Paper Details
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