Julia Karow tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb. Follow her on Twitter at @Julia_Karow.
The projects, organized by Friends of Cancer Research in the US and the Quality Assurance Initiative Pathology (QuIP) in Germany, are comparing different TMB assays.
Three vendors applied their variant calling and interpretation pipelines to the same tumor NGS panel data and came up with overlapping but different results.
The Hartwig Medical Foundation currently sequences about 7.5 percent of all metastatic cancer biopsies in the Netherlands, processing 250 to 300 samples per month.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
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.
Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.
The company plans to launch the system this summer in Europe, aiming to broaden cell-free DNA screening for trisomy 21, 18, and 13.
The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.
The company plans to grow its business based on the FDA approval and preliminary national coverage determination for its FoundationOne CDx test last year.
Researchers have sequenced the northern white rhinoceros to gauge whether it could be brought back from the edge of extinction, the New York Times reports.
Bavaria expands its forensic genetic analyses to include DNA phenotyping, raising discrimination concerns.
Tufts University researchers found a role for miRNA in transmitting stress between generations, the Economist reports.
In Science this week: gut microbiome influences liver cancer growth, spread; and more.