Ensembl 80

May 22, 2015

Ensembl 80 is now available here. This release includes 1000 Genomes phase 3 and dbSNP build 142 studies for human as well as updated zebrafish and rat gene annotations among other updates.

Breaking News

Rare Genetic Variants May Aid Understanding of Complex Traits, Health Conditions
Nonalcoholic Steatohepatitis Linked to Inflammation-Related Liver Cell Signature
AGBT: Low-Coverage Whole-Genome Sequencing Powers Dog Genetics Studies at UMass Medical School
UnitedHealthcare Will Cover Guardant360 for Approved CDx Indications in Lung and Breast Cancer
UPDATE: BioMérieux Point-of-Care System, Respiratory Panel Get FDA 510(k) Clearance, CLIA Waiver

The Scan

Wolf Howl Responses Offer Look at Vocal Behavior-Related Selection in Dogs

In dozens of domestic dogs listening to wolf vocalizations, researchers in Communication Biology see responses varying with age, sex, reproductive status, and a breed's evolutionary distance from wolves.

Facial Imaging-Based Genetic Diagnoses Appears to Get Boost With Three-Dimensional Approach

With data for more than 1,900 individuals affected by a range of genetic conditions, researchers compared facial phenotype-based diagnoses informed by 2D or 3D images in the European Journal of Human Genetics.

Survey Suggests Multigene Cancer Panel VUS Reporting May Vary Across Genetic Counselors

Investigators surveyed dozens of genetic counselors working in clinical or laboratory settings, uncovering attitudes around VUS reporting after multigene cancer panel testing in the Journal of Genetic Counseling.

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.