Category Archives: Bioinformatics

Gene Structure Data in ENSEMBL: Where Did All the Introns go?

September 27th, 2011 | Posted in Bioinformatics

Traditionally, genomic browsers and databases have indexed exons (and UTRs with exons), but have not properly kept data on all three genomic structures (UTRs, Exons, and Introns). In this post, the problem is dissected, and a solution offered at The Geno.me is discussed.

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The Consumer Genetics Conference of 2011

May 19th, 2011 | Posted in Bioethics, Bioinformatics, Consumer Genetics, DNA Sequencing, Genetics News

The 3rd Annual Consumer Genetics Conference will be held at the Hynes Convention Center in Boston from June 7th through June 9th.

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Osama’s DNA: Testing and Its Limitations

May 13th, 2011 | Posted in Bioinformatics, Genetics News

They tested Osama bin Laden’s sister to confirm his removal from the world. How definitive is this test?

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Ion Torrent: The Dark Side of DNA Sequencing

April 12th, 2011 | Posted in Bioinformatics, DNA Sequencing

Ion Torrent, a product of Life Technologies, is a new, disruptive DNA sequencing platform that determines DNA reads using a completely novel, electrical signal-based detection method. Unlike the classical Sanger methods which rely on fluorescence and light, Ion Torrent can sequence in the dark.

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Sequence Variants and the Genomic Databases: Standardizing the Nomenclature

June 22nd, 2010 | Posted in Bioinformatics

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 number making it difficult in practice to locate these mutations for either research or clinical purposes. A static reference genome assembly (for instance, the Locus Reference Genomic sequence), an up to date system of nomenclature (mutation name according to gDNA position instead of cDNA position), and more useful indexing between gDNA, cDNA and protein sequences (exon indexing) will allow for a more useful variation browser to be created.

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