Author Archives: Cody Sarrazin

Cody Sarrazin

About Cody Sarrazin

Cody Sarrazin, Ph.D is a Product Specialist Scientist at Golden Helix, joining the team in May of 2017. Cody graduated in 2014 with a doctorate degree in Mechanical Engineering from the University of Utah. Cody works on product testing and data curation. When not in the office, Cody is hanging out in the mountains or tinkering on a new project.

Using the GRCh38 Reference Assembly for Clinical Interpretation in VSClinical – Webcast Recap

VCF file format

Even though GRCh37 is currently the most widely used human genome assembly, GRCh38 provides a more complete human reference genome, offers more accurate genomic analysis, and includes centromere and mitochondrial information. However, we’re getting ahead of ourselves. Perhaps start with how we got here. The Human Genome Project started this all off with the world’s largest biological collaboration project in… Read more »

New & Improved ClinVar Annotations

ClinVar

ClinVar is the NCBI variant database that focuses on the categorizing of variant alleles and their interpretation from a clinical standpoint. This has made it a great resource, especially for those seeking variant allele disease correlations and pathogenicity. And this all worked fairly well, but it was changed… Previously, the ClinVar variant track annotation took some time to curate due… Read more »

How we’re curating OMIM: It’s not as easy as you think

Relating human phenotypes to genotypes is the name of the game with OMIM, and as their website says, “is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.” The Online Mendelian Inheritance in Man (or OMIM) was originally created by Dr. Victor A. McKusick in… Read more »

New and Updated Annotations

      Cody Sarrazin    December 7, 2017    No Comments on New and Updated Annotations
Genotype Imputation

Golden Helix is excited to announce a new round of novel and updated annotations; including a frequency track, a region track, and a gene track. All three of these tracks were created with the use of VarSeq and its Convert Wizard functionality. First, the expansive 1000 genomes track (1kG) has been updated to include sub-population allele frequencies and heterozygous and… Read more »