Author Archives: Alison Figueira

About Alison Figueira

Alison Figueira is a Software Engineer at Golden Helix, joining the team in January of 2014. Alison graduated from Montana State University in May 2014 with a bachelor’s degree in Computer Science and two minors, one in Japanese Studies and the other in Statistics. She works on SVS features in both the core product and in scripts. When not at work, Alison enjoys playing video games and drawing.

CADD, OMIM and OncoMD Coming to SVS

CAD, OMIM and OncoMD

For our upcoming SVS 8.6.0 release, we’ve updated our Annotate and Filter Variants feature to utilize our powerful VarSeq annotations. Annotations can be run against gene, interval, variant, and tabular tracks, including RefSeq, ClinVar, CADD, OMIM and OncoMD. The new streamlined dialog allows users to select track specific options and to set up custom filters. While our public annotation repository… Read more »

Runs of Homozygosity Updated

      Alison Figueira    August 12, 2014    No Comments on Runs of Homozygosity Updated

For the SVS 8.2 release we decided to improve upon the existing ROH feature. The improvements include new parameters to define a run and a new clustering algorithm to aide in finding more stringent clusters of runs. The improvements were motivated by customer comments and a recent research paper by Zhang 2013, “cgaTOH: Extended Approach for Identifying Tracts of Homozygosity,”… Read more »