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Jay Shendure's lab at the University of Washington has shown that exome sequencing can be used to find a gene behind a rare genetic disorder. Using an array- and next-generation sequencing-based approach, Shendure and his colleagues sequenced the exomes of 12 people: eight individuals from the HapMap Project and four people with Freeman-Sheldon Syndrome, an autosomal dominant disorder marked by craniofacial, hand, and foot abnormalities.

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Researchers uncovered the HIV virus within a tissue sample collected in 1966, the Atlantic reports.

Nature News reports there are a handful of clinical trials underway to evaluate vaginal microbiome seeding of newborns born via caesarian section.

The Washington Post writes that humans may have contributed to the extinction of cave bears some 20,000 years ago.

In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.

Aug
22
Sponsored by
BC Platforms

This webinar will discuss how the Estonian Biobank, a cohort of more than 165,000 participants, is addressing industry challenges with data management and collaboration in the transition to precision medicine.

Aug
29
Sponsored by
PerkinElmer

This webinar will outline how RUCDR Infinite Biologics, the world's largest university-based biorepository, has implemented workflows and processes to support precision medicine applications.

Sep
16
Sponsored by
ArcherDX

This webinar will discuss a next-generation sequencing approach for detecting genomic mutations in hematologic maglignancies.

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.