We comprehensively assessed the influence of reference minor alleles (RMAs), one of the inherent problems of the human reference genome sequence. The variant call format (VCF) files provided by the ...

As next-generation sequencing (NGS) makes genetic testing for a wide range of human diseases increasingly commonplace, facile methods for validating the efficacy of those tests are essential. Federal ...

Analysis of Roche KAPA Target Enrichment kit experimental data obtained on an Illumina sequencing system is most frequently performed using a variety of publicly available, open-source analysis tools.

ST LOUIS--(BUSINESS WIRE)--Appistry, Inc., a leading provider of tools, software, and services that bring the power of genomics to next-generation medicine, today announced the release of Variant ...