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Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.
At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
At a time of rapid growth in the consumer genetics space, PerkinElmer and NorthShore are developing digital apps to ease access to genetic disease risk information through Helix.
The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient.
At the ACMG annual conference in Phoenix last week, several labs and companies discussed their efforts in healthy genome sequencing.
Using monogenic diabetes registry examples, a University of Chicago researcher argued that appropriate genetic testing is needed to detect monogenic diabetes.
The organization cited ethical concerns and technological limitations surrounding CRISPR and other gene-editing approaches.
The group published a position statement today advocating for "extensive" sharing of lab and clinical data in order to improve treatment of patients.
NPR reports that researchers have developed chimeric embryos as part of work toward growing human organs in animals for organ transplants.
According to the Washington Post, the Biden Administration is set to make changes to federal restrictions on fetal tissue research.
In Science this week: approach to isolated trace DNA from archaic humans from sediments, and more.
Texas Monthly looks into the DNA Zoo being collected by Baylor College of Medicine researchers.