Resource Library

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Methods for Detection of Sample Swaps, Contaminants, and Pedigrees

Poster from AGBT 2017 conference on a sequencing based approach for fingerprinting samples to identify potential sample swaps, contamination, and pedigrees.

Somatic Mutation Discovery with GATK4

Poster from AACR 2017 conference on somatic mutation discovery with GATK4.

Validation of the Firehose somatic variant calling pipeline for clinical whole exome sequencing

Poster from AGBT 2015 conference on the validation of Firehose tools, MuTect and Indelocator, for somatic variant detection, when applied to clinical whole exome sequencing data from matched tumor and normal patient samples.

Error proofing exome sequencing for somatic variant detection: combining analytic tools and lab process improvements to uncover and reduce artifacts in exome sequencing data

Poster from AGBT 2015 conference on the improvement to sensitivity of analytical tools in discovering rare variants in deep coverage data.

Delivering Population-Scale Genomics: A deep dive into HiSeqX performance and capabilities

Poster from AGBT 2015 conference on the how the Illumina HiSeqX sequencers have enabled the Broad Genomics Platform to generate an unparalleled amount of data.