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CHICAGO (GenomeWeb) – An international team of biomedical informatics researchers has mapped some new associations between human leukocyte antigen mutations and specific diseases, courtesy of data matching between phenotypes and electronic health records.

The researchers posted their data on a freely available website and described their work in a paper published today in the journal Science Translational Medicine.

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The US National Institutes of Health's All of Us project awarded $4.6 million to the company Color to develop a genetic counseling resource for the program.

The Times of India reports on a pilot study that used genomic testing to determine whether patients had drug-resistant tuberculosis.

New guidelines say that more women may benefit from genetic testing for hereditary breast or ovarian cancer, according to the Los Angeles Times.

In Cell this week: small proteins identified among human microbiome, role for tumor microbes in pancreatic cancer survival, and more.

Sep
18
Sponsored by
Bionano Genomics

This webinar will outline how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr system to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.

Oct
23
Sponsored by
Swift Biosciences

This webinar will illustrate how single-cell methylation sequencing can be applied to gain significant insight into epigenetic heterogeneity in disease states, advancing cancer research discoveries. 

Oct
24
Sponsored by
Sunquest

This webinar will tell the story of Versiti’s journey in transforming genetic testing from a manual to a digitized process. It will include detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.