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Accounting for polygenic background in conditions like hereditary breast cancer or Lynch syndrome can increase the accuracy of disease risk estimation.
Most of the disease risk carriers identified in the Healthy Nevada Project did not meet clinical guidelines for screening, according to the new analysis.
The AHA said genetic testing is useful in the management of several inherited diseases such as cardiomyopathies and familial hypercholesterolemia.
Understanding the genetic causes of hypercholesterolemia could provide prognostic information to help treat patients, the researchers said.
The Tapestry study will initially return genetic results for familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome to patients.
Geisinger researchers will work with collaborators at the nonprofit FH Foundation to develop new methods for the identification and cascade testing of FH.
With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.
Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
The Wall Street Journal reports on gaps in COVID-19 testing affecting less affluent urban areas and rural locations.
According to NBC News, new SARS-CoV-2 variants are making it harder for researchers to model the course of the pandemic.
The New York Times reports that experts say President Joe Biden's goal of vaccinating 1 million people a day in the US in the next 100 days is too low a bar.
In Science this week: single-cell lineage tracing technique applied to study lung cancer metastasis, and more.