Category Archives: Clinical genetics

CADD Scores: Rank and Filter in Harmony!

CADD Score

There used to be much energy expended at conferences, bioinformatics forums and even publications about what was the better strategy for interpreting variants of clinical significance: Rule-based filtering and classification mechanisms or rank-based prioritization through all-encompassing “pathogenicity” scores. Both have shown to be effective. Rule-based systems, as exemplified in this filtering diagram in Baylor’s ground-breaking paper on clinical whole-exome sequencing… Read more »

N-of-One Integration comes to VSReports

Update_fi

Submit directly to N-of-One from VarSeq If you or your lab uses N-of-One solutions for clinical annotations, here’s some good news: You can now submit directly to N-of-One from VarSeq! N-of-One’s set of preferred transcripts may differ from those outputted by our algorithms in VarSeq, so our solution was built with that in mind. Our slick, easy to use, and… Read more »

Clinical Reports – New & Improved Templates!

Update_fi

Clinical reports come in all shapes, sizes and flavors. With that in mind, our clinical reporting interface VSReports was built to be highly customizable and flexible.  With a little Javascript and HTML know-how, your clinical reports can be customized to meet the needs and goals of your lab. With a little Javascript and HTML know how, you can customize yours as… Read more »

Practical VarSeq Example – Cancer Gene Panel

bigVontop

Recently, we were excited to find a new example data set for cancer gene panels. We have included this example data in the latest e-book by Dr. Andreas Scherer, Genetic Testing for Cancer as well as in the latest cancer webcast . This data is from Illumina’s MiniSeq sequencer and the TruSight Cancer panel. The BAM and VCF files for three samples… Read more »

Quality Assurance Sample Statistics Added To VarSeq

VarSeq

As VarSeq continues its adoption amongst clinical labs and researchers looking for reproducible workflows for variant annotation, filtering and interpretation, we have continued to prioritize the addition of features to assess the quality of the upstream data at a variant, coverage and now sample level. The  Importance of Quality Assurance Sample prep and sequencing problems are difficult to detect through the analysis… Read more »