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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