Alex H. Wagner

Very exciting progress on @ClinGenResource Somatic oncogenicity assessment of NTRK fusions, being presented NOW at #AMP22. Drop by poster G025 (Genetics section) to learn more from @jasonmsaliba about this product of the ClinGen NTRK fusions group!

Updates to the @CIViCdb resource being presented by @KilanninK RIGHT NOW at #AMP22! Come visit poster G047 in the Genetics section!

It's like they're not even trying anymore.

6yo had pinewood derby race today. 3rd place (of 10) first graders, 8th place overall across K-5, very happy. Comes home, immediately designs car for next year. Looks just like 1st place car this year. The recipe for success? Red paint, wood, wheels.

Saw the rare "Anonymous Nyan Cat" in a collaborative Google Doc today. I consider this a good omen for the project.

I discovered what passes for morning rush hour on the big island. #psb22

Just watched “don’t look up” and did a quick search about the movie. What more fitting response to this movie could you find than the top “People also ask” questions?

At some point I came to the conclusion that homemade latkes are 100% what #Hanukkah is about and I stand by that assertion. Thankful for a spouse (and assist from kids) that made a surprise batch for dinner tonight!

In conjunction with a computed identifier algorithm (Figure 4), the value object design principle enables computed identifiers for VRS objects. Consequently, Variation from sequences with multiple identifiers (e.g. RefSeq, GENCODE, etc.) resolve to the same computed identifier!

As value objects, VRS Variation objects representing the same variation on the same sequence are identical anywhere, without prenegotiation between services. This has important implications for federated knowledge exchange.

Each of these classes is formally specified in a technical terminology and information model, which serves as the foundation of the specification. This information model is the heart of what makes VRS uniquely suited to computability: value object representation.

With VRS, you can represent each concept explicitly: a tandem duplication is a form of molecular variation (Allele) and is distinct from systemic variation (Copy Number). VRS also supports SNVs, indels, haplotypes, ranged locations, and cytogenomic variation (paper Figure 2).

For example, a variant ("NC_000001.10:g.(?_1950843)_(1961741_?)dup") was submitted as a tandem duplication using HGVS to a public database. Buried as free-text in the submission description there is important context: this was intended to represent a copy number gain.