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mutation detection

At the Association for Molecular Pathology annual meeting, cancer researcher William Hahn talked about efforts to map cancer fitness genes at the genome scale.

Using tumor and matched normal sequence data generated for tens of thousands of cancer patients, the team identified mosaic cancer susceptibility in around one in 1,000 cases.

Researchers combined protein expression with mutational analysis to map the somatic genotype and clonal architecture of AML with its immunophenotype.

Using tumor sequencing variant data, investigators identified clonal hematopoiesis mutations in blood that appear to be linked to therapy-related neoplasm risk.

The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders.

A genomic and transcriptomic analysis of melanocyte skin cells from deceased donors identified cancer-related mutations in outwardly normal skin samples.

With targeted, exome, and whole-genome sequencing data, investigators saw recurrent driver mutations and heterogeneous mutational signatures in seemingly normal bladders.

Genomic and epigenomic data suggest it may be possible to target an FGFR fusion found in open chromatin in a subset of adenosquamous carcinoma of the pancreas tumors.

Analyzing genome sequences from dozens of cases and controls, researchers saw an IBD-associated jump in somatic mutations in colonic crypt samples.

Researchers analyzed evolutionarily constrained non-coding mutations in genome sequences from dozens of glioblastoma patients, identifying regulation-related changes.

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According to the Washington Post, the Biden Administration is set to make changes to federal restrictions on fetal tissue research.

NPR reports that researchers have developed chimeric embryos as part of work toward growing human organs in animals for organ transplants.

In Science this week: approach to isolated trace DNA from archaic humans from sediments, and more.

Texas Monthly looks into the DNA Zoo being collected by Baylor College of Medicine researchers.