A few new papers

It seems like years ago since we put together a three site team to participate in the Clarity Challenge. This contest was an incredible learning experience. We just heard that the manuscript detailing this giant effort in clinical genetic analysis has been accepted by Genome Biology: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. The paper is available here.

We also had news yesterday that the Phevor manuscript is in press at the AJMG. This manuscript describes the Phevor tool that combines the output of variant prioritization tools with phenotype description to increase ranking on the disease causing variant. This tool is empowered by ontologies and is driven from the Yandell lab here in Utah. I am very excited to be part of this collaboration. The paper is available here. Phevor does computationally what we tried to do manually for the CLARITY Challenge; the patient has a phenotype,  which has been associated with a handful of genes. Does VAAST find genes that have similar GO annotations to the genes already associated with this phenotype?

We also heard yesterday that a manuscript in collaboration with  Ken Kawamoto’s lab has been accepted for publication. A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information. Ken  is a driver of openCDS, and it is great to work with such a practical person. The paper is available here. This is the first of three manuscripts we have in the pipeline that describe CDS for genomic data.

Yesterday I was part of two paper submissions to the Amia conference. Fingers crossed.

 

 

 

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