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www.cbsnews.com - Coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient's requirements — hence the term “Precision...

Air date: Wednesday, January 04, 2012, 3:00:00 PM Time displayed is Eastern Time, Washington DC Local Category: Wednesday Afternoon Lectures Description: There is a broad consensus that cancer is the result of somatic cells having serially...

www.nature.com - Analysis of the genomes of >350,000 individuals revealed the existence of a small though measureable association between genome-wide homozygosity and some vital complex traits... Directional dominance is predicted for traits under...

www.well.ox.ac.uk - Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect...

The scientists established some guidelines for determining whether a variant is a legitimate branch of an existing lineage:

sourceforge.net - AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to...

github.com - Welcome to kevlar, software for predicting de novo genetic variants without mapping reads to a reference genome! kevlar's k-mer abundance based method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs),...

github.com - Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a...

github.com - Merfin, a k-mer based variant-filtering algorithm for improved accuracy in genotyping and genome assembly polishing. Merfin evaluates each variant based on the expected k-mer multiplicity in the reads, independently of the quality of the...

EMBL-EBI distributes datasets worldwide using the Janet network. This biological data enables the discovery of new drugs, new diagnostics and increasingly new agro-chemicals. Their work, which includes the 1000-genome project, has generated...