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mutation detection

Researchers have found that mutations present in medulloblastoma tumors at relapse differ substantially from those present at diagnosis.

Researchers shared results from a benchmark study both identifying weaknesses and laying the groundwork for more accurate characterization of somatic mutations.

A team of researchers performed targeted sequencing to examine the genetic evolution of melanoma and found evidence for an intermediate type of lesion.

The researchers’ method involves the use of third base pair labeling, PCR amplification, and nanopore sequencing.

Spiral has developed graph-based query technology for compressing and querying large genomic cohorts quickly that is currently being piloted at Baylor College of Medicine

The researchers found the method has high sensitivity and specificity and are now offering it clinically at UW.

As part of the CORRECT trial, researchers compared analyses of liquid and tissue biopsies, finding support for using circulating DNA to follow tumor progression.

A proof-of-principle study suggests blood and saliva may contain markers for finding and following head and neck squamous cell carcinomas.

The group found that a combination of algorithms performs better than any one single algorithm.

Dutch and US researchers have conducted a genome-wide analysis of de novo mutations in humans and developed a genome-wide mutation rate map.


The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.