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 ...

The pipeline utilizes several external databases as illustrated in the figure. The sources of these databases are summarized in the table below. The test data provided in this documentation provides ...

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 ...