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Centralizing Clinical Variants

The National Center for Biotechnology Information's ClinVar database is proving useful for clinical labs trying to interpret genetic variants uncovered by next-gen sequencing, reports Nature.

ClinVar, designed to house information on the relationships between human variations and phenotypes, not only integrates clinical variation data from numerous publicly available resources, but "also provides, for the first time, a central place in which clinical testing laboratories can deposit their data," Nature says.

Clinical sequencing labs have to perform a considerable amount of analysis on novel variants to determine whether they are benign or pathogenic. But keeping this data in house means that many groups are duplicating their efforts.

"There is a growing recognition that a clinical lab may see a mutation once or never, so it’s better if all those data could be pooled,” says James Ostell, chief of the information engineering branch at NCBI.

“For everybody in the field, I think there will be a sigh of relief that this is finally happening,” adds Stephen Kingsmore of the Children’s Mercy Center for Pediatric Genome Medicine.

He says that when clinical labs share their data through ClinVar, “patients are going to be getting the best thinking of the community as opposed to an individual lab.”

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.