Bina Bloggers

Advancing the Goal of Precision Medicine: Our PrecisionFDA Truth Challenge Results

Posted by Jian Li on Jul 19, 2016 10:00:00 AM

The Food and Drug Administration (FDA) recently launched a second precisionFDA Challenge to engage the genomics community in improving algorithms used for next-generation sequencing (NGS) analysis. This “Truth Challenge” aims to evaluate software pipelines for analyzing whole human genome sequencing datasets by comparing resulting variant calls against a new known truth that is not publically available at the time of submission.

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Topics: News, GiaB, PrecisionFDA, Sequencing, Truth Challenge, INDELs, whole genome, SNPs

MetaSV Validation of Genome in a Bottle Gold Set

Posted by Marghoob Mohiyuddin on Feb 9, 2016 9:00:00 AM

The Genome in a Bottle Consortium (GiaB) aims to bring together bioinformaticians from multiple companies and institutes together in order to develop better reference materials to enable clinical practice from whole genome sequencing. Bina is an active member of GiaB and contributes to the validation as well as the enhancement of GiaB reference datasets.

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Topics: structural variation, MetaSV, GiaB, Genome in a Bottle

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