A heterozygous variant upstream of the BRCA1 translation start site was uncovered in all individuals in these two families with hypermethylated BRCA1 promoters.
The researchers showed that Cas12a discriminates strongly against mismatches to DNA targets, leading to less off-target DNA cleavage than with Cas9.
Led by researchers at the University of Iceland, the study combined deep proteomic, genomic, and phenotypic data from a cohort of more than 5,000 subjects.
A Samsung University team found that mutation load measured with the Guardant360 liquid biopsy assay predicted response as well as tissue-based TMB.
The UPenn team will collect genetic information from outside patient cohorts, reorganize it in a streamlined process, and provide a database for downstream studies.
Researchers saw subway line-specific microbes on the hands of subway riders, with increased skin microbial community convergence in samples from evening commuters.
A panel led by the FH Foundation recommends routine genetic testing for those with very high LDL cholesterol and a family history of high cholesterol or early heart attack.
The Garvan team has shown that whole-genome sequencing can diagnose more cases than targeted panels and is now demonstrating its cost-effectiveness.
A PCR-based analysis of nearly 700 cases picked up human papillomavirus or human polyomaviruses DNA in a fraction of urothelial bladder carcinoma tumors.
With a $300 million investment in 23andMe, GSK pivots toward personalized medicine again, while the consumer genomics firm hitches its drug development ambitions to GSK.
Rady Children's Institute for Genomic Medicine and Deloitte are looking into the use of drones to transport samples for testing.
Direct-to-consumer genetic testing firm 23andMe is laying off about 100 people.
Researchers from Northwestern University examined dust for antibiotic-resistance genes, New Scientist reports.
In Science this week: researchers present a computational method for predicting cellular differentiation state from single-cell RNA sequencing data, and more.