exome sequencing

Individuals with higher-than-usual mutant allele frequencies after stem cell transplantation were prone to disease progression and reduced progression-free survival.

Researchers found that the diverse features in mixed phenotype acute leukemia may stem from early blood progenitor mutations.

Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.

A phylogenetic analysis that included multiple samples per patient suggests overlapping driver mutations make their way into multiple metastases in each patient.

The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.

The results suggest that some Ewing sarcomas could be detected earlier, when they are easier to treat.

The researchers analyzed whole-exome sequencing data from 249 tumors and matched normal tissue from patients with known outcomes to immunotherapy.

The transcriptomes of recessive dystrophic epidermolysis bullosa squamous cell carcinoma also suggested a role for inflammation in disease development.

The team also elucidated well-established and controversial non-BRCA predisposition genes associated with breast or ovarian cancer.

The platform integrates whole exome and RNA sequencing for downstream RNA-based drug repurposing to treat patients with relapsed multiple myeloma.

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The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.

The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.

Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.

In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.