VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs

VarSeq Updated

VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs This year we have released multiple advances to support CNV analysis in VarSeq, expanding our target region based VS-CNV caller to handle exomes and low-depth genomes as well additional supporting algorithms like calling Loss of Heterozygosity regions. To top this off, VarSeq 1.4.7 has been shipped with many expanded… Read more »

Top 10 Posts for Understanding Clinical Annotation of Genomic Variants

Top 10

The VarSeq clinical platform is built on a strong foundation of data curation and annotation algorithms to ensure the variants identified have all the information required to make the correct clinical assessments.  It’s easy to make light of “variant annotation”, but the details run very deep into the roots of how we represent genomic data, how public data is aggregated, stored… Read more »

Understanding Your GWAS Signal with LD Scores

Genome-Wide Association Studies

When studying complex diseases that may have multi-genic contributions from across the genome, it is not uncommon to see what may appear like elevated correlation between your trait or other test variable and the SNPs across the genome. The problem is at first glance you won’t be able to tell if this is due to a population structure in your… Read more »

CNV Caller Updates and More with VarSeq 1.4.5

Genotype Imputation

We have been heads down doing the detailed and careful work to improve our CNV caller algorithm in the past three months since our we launched our Exome capable CNV caller and are very excited about the massive step forward we have made with the VarSeq 1.4.5 release. Additionally, we have added the all new Whole Genome large-event caller capable… Read more »

Annotating with gnomAD: Frequencies from 123,136 Exomes and 15,496 Genomes

annotating gnomAd

Annotating with gnomAD: Frequencies from 123,136 Exomes and 15,496 Genomes When the Broad Institute team lead by Dan MacArthur announced at ASHG 2016 that the successor to the popular ExAC project (frequencies of 61,486 exomes) was live at http://gnomad.broadinstitute.org/, I thought their servers would have a melt-down as everyone immediately jumped on and started looking up their favorite genes and… Read more »