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exome sequencing

Using exome or transcriptome data from more than 400 metastatic, castration-resistant prostate cancer cases, researchers identified survival-related alterations in the RB1 gene.

The firm's "TuMatch" assay integrates patient whole-exome sequencing data and fruit fly models to develop a personalized drug therapy service for cancer patients.

Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.

With genomic and proteomic profiles for more than 100 colon cancer cases, researchers identified drug targets, treatment resistance insights, potential cancer drivers, and more.

Starting with a head and neck cancer patient who showed an impressive response to pembrolizumab, researchers profiled gene fusion neoantigens in several tumor types.

The company believes that blood-based exome sequencing can increase the applicability of its Signatera assays and could serve as a reflex to interrogate detected recurrences.

The study authors cautioned that immunological signatures cannot be predicted from tumor mutational burden or microenvironment analysis of a single biopsy alone.

Researchers identified germline and somatic changes that marked low-grade and high-grade cases in adults and children with a condition called neurofibromatosis 1.

Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.

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

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