The collaboration between Columbia University and The Hebrew University suggests some surprising biology could improve loss-of-function genetic screening.
The study hints that iPSCs derived from patients with the hereditary disease could be edited ex vivo and reintroduced to fix damaged retinas.
The funds from the Sohn Conference Foundation will allow the university to provide sequencing analysis and expertise to kids with cancer to hospitals in the city.
The researchers looked at the first 10,030 consecutive patients referred to GeneDx for germline hereditary cancer panel testing by next-generation sequencing.
As part of a course this fall, 20 undergraduate and graduate students used the MinIon in two hands-on "hackathon" sequencing projects.
The performance of WES for genetically heterogeneous disorders improves significantly when testing is performed on the proband and two or more family members.
Both tests analyze tumor and normal samples by next-generation sequencing to help doctors make therapy decisions for cancer patients.
Independent analyses on dozens of tumor-normal Sézary syndrome pairs points to frequent alterations in signaling, cell cycle, and epigenetic pathways.
The site, introduced at the American Society of Human Genetics meeting last week, supports genotyping data generated by 23andMe, AncestryDNA, and FamilyTreeDNA.
The session included perspectives from three clinical researchers from the US and Europe and a representative of the US Food and Drug Administration.
NPR reports that many USDA researchers working at the two agencies that are relocating to the Kansas City area are declining to go.
Genetic genealogy has helped exonerate a man who has been jailed for 20 years, Agence France Presse reports.
A new report says genetically modified food might be necessary to be able to feed a planet of nearly 10 billion people, Bloomberg says.
In Nature this week: new RNA editing approach called LEAPER, draft assembly of Musa balbisiana banana genome, and more.