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mismatch repair deficiency

The firm believes that data from a recently published study illustrates the advantages of its technology for methylation-specific PCR assays.

Researchers separately found that the assay had high concordance with other techniques in cancers including colorectal and endometrial carcinomas.

An analysis of matched tumor-normal samples from dozens of colorectal cancer patients pointed to microbiome differences related to mutations and other tumor features.

During the meeting, researchers presented studies on combination immunotherapies and the efficacy of giving molecularly-informed treatments earlier in the disease continuum.

In a pan-cancer analysis, Lynch syndrome genes were mutated more often than anticipated in tumors with high or intermediate levels of microsatellite instability.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more. 

The updated recommendations discuss testing for DNA repair gene mutations, MSI-H, and dMMR, as well as germline testing and counseling.

Wired reports on how genetic genealogy's use in forensics has exploded in the year since an arrest in the Golden State Killer case was made.

Retraction Watch reports that the increase in retracted papers at a journal is due to more resources there to tackle publication ethics.

New York City has settled with a forensic scientist who was fired after questioning a DNA testing approach used by the medical examiner's office, the New York Times reports.

In Nature this week: technique for measuring replication fork movement, WINTHER trial results, and more.