Direct to Consumer vs. Diagnostic Genetic Testing

Tweet This post originally appeared on the Phosphorus blog on September 23, 2016. The original post can be found here. Tackle The Challenges of Institutional Health Care or Avoid The Hassle? Recently, we seem to hear about genomics everywhere. Major publications are talking about the $1000 genome. President Obama has launched a Precision Medicine initiative. […]

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Sequence Variants and the Genomic Databases: Standardizing the Nomenclature

UCSC AMPD1

Genomic sequence variants, including single nucleotide polymorphisms, insertions, deletions, and even deleterious substitutions, are often listed with a deprecated nomenclature and incorrect nucleic acid or amino acid names. A static reference genome assembly (for instance, the Locus Reference Genomic sequence) is greatly needed.

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