Category Archives: Bioinformatics

Sequence Variants and the Genomic Databases: Standardizing the Nomenclature

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.

Analysis of 23andMe’s Genotyping: High Accuracy of Illumina Platform Confirmed by Comparing Siblings

An analysis of 23andMe genotype data between siblings to check for genotyping errors reveals high accuracy (99.15%) of genotype calls.

Modeling Evolution in vitro and in silico

Artificial life is no new idea. Computer scientists have investigated and made use of many of the principals around AI for years. However, in silico models of evolution have been shown to produce some form of self-replicating, mutating, artificial life. How far have these models gone, and where will they go next? Is this playing God?

Identity by State SNP Analysis: Find Relatives, Test Paternity, and Determine Allele Sharing

Identity by State SNP Analysis can be used to find relatives, test paternity, examine inbreeding, and look at recombinations between siblings.

Use Family SNP Data to Phase Your Own Genome

With family trio SNP data (father, mother, child), it is possible to determine the haplotypes for the child. A step-by-step guide along with a program to execute this task is presented.

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