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The OpenNotes movement is encouraging experimentation as some health systems start making complete genomic reports available to patients the moment the lab signs off.
Clonal hematopoiesis variants appear to outnumber tumor mutations in the plasma of most cancer patients, the investigators found in their study.
Researchers found that about 12 percent to 15 percent of breast cancer patients carry multiple mutations in the gene, 95 percent of which are double mutations.
The company's SpliceCore platform maps patient RNA sequencing data to a collection of over 5 million alternative splicing errors to pinpoint ones that cause disease.
The company said it has seen progress in efforts to get FDA approval for its tissue and liquid biopsy tests as data continues to accumulate for pan-cancer utility.
The grant recipients will receive up to $5 million each and are led by scientists at institutions including Harvard Medical School and the Cleveland Clinic.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
MSK-ACCESS sequences 129 cancer-associated genes selected from the MSK-IMPACT assay and is designed to detect gene alterations in cfDNA specimen.
Combined DNA/RNA-seq efforts in various settings could lead to new ways of treating kids with drugs meant for adults or to the development of new therapies.
A study of more than 10,000 women showed cancer predisposition genes confer similar risks of breast cancer in African-American women as in whites.
A new study finds that three dimensional facial scans may be able to aid in diagnosing rare genetic diseases.
The Lancet and the New England Journal of Medicine have retracted two COVID-19 papers due to concerns about the data used in their analyses.
Lawmakers plan to introduce a bill that aims to prevent the theft of US-funded research, according to the Wall Street Journal.
In Science this week: analysis of ancient Caribbean islanders' genomes suggests at least three waves of migration into the region, DNA barcoding of microbial spores, and more.