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.
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.
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.
Evolutionary fitness, in a nutshell, is a measure of how many offspring a person has. To have more offspring is to be more successful (evolutionarily). Polygamists and serial divorcers put themselves at an “evolutionary advantage” by having more wives.
An analysis of 23andMe genotype data between siblings to check for genotyping errors reveals high accuracy (99.15%) of genotype calls.