Tag Archives: VarSeq

Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Bonei Olam

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront of reproductive medicine, research and technology. Specifically, Bonei Olam has… Read more »

Using Clinical Reports in a Gene Panel Pipeline

Gene Panel

Upcoming Golden Helix Webcast: Using Clinical Reports as part of a Gene Panel Pipeline Wednesday, July 13th @ 12:00 pm EDT VarSeq Reports can be used as part of an automatic pipeline to quickly list variants with information that can be used to make actionable clinical decisions in a readable HTML format. Need to further filter the variants or add interpretation… Read more »

Diagnosing Rare Disease at King Abdulaziz Medical City

King Abdulaziz Medical City

King Abdulaziz Medical City (KAMC) in Riyadh commenced its operations in May 1983. Since then, it has continued expanding, while providing services for a rapidly growing patient population in all of its catchments areas. Today, King Fahad National Guard Hospital has evolved to be part of the King Abdulaziz Medical City with many other prominent medical centers. Since its inauguration… Read more »

VSPipeline Tips and Tricks

VSPipeline Tips & Tricks

The power of VSPipeline is in it’s ability to automate VarSeq workflows. Using VarSeq to create a pipeline template is great because it allows you to dial in the applied filters as well as interactively organize the annotations and applied algorithms. Automating a workflow with VSPipeline is  straightforward when beginning with an existing project. However, there are several steps that… Read more »

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 »