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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.
The Washington Post writes that the approval in the US of a SARS-CoV-2 vaccine will be up to Peter Marks, a career official at the Food and Drug Administration.
According to ScienceInsider, the US National Academies of Science, Engineering, and Medicine is planning a study of racism in academic research.
NPR reports the US loan to Eastman Kodak to boost domestic pharmaceutical production is on pause following insider trading allegations.
In Cell this week: blood immune cell changes in COVID-19 patients and spatial transcriptomics in Alzheimer's disease.