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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Advances in Genomics – Embracing Newer Technologies and More Data

genetic-technology

Genomics is exciting right now. The sci-fi movies I watched growing up have somehow become not just feasible, but reality. We’ve successfully determined most of the 6 billion bases that makes a human. Our brilliant scientists and researchers are starting to piece together the massive amounts of data that might describe how our genes interact. Genetics is digital.

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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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