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exome sequencing

With array and exome data, Australian investigators saw apparent ties between amelanotic/hypomelanotic melanoma and rare albinism gene changes.

The company's approach combines whole-genome sequencing, CRISPR, liquid biopsy, and gene therapy to target cancer cells with gene fusions.

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.

With targeted sequence data on more than 500 cases of the lymphatic fluid accumulation condition, researchers found and explored lymphedema-related ANGPT2 mutations.

Using proteomic, phosphoproteomic, and genomic data, researchers uncovered informative features in primary and metastatic samples from almost 150 CRC cases in China.

Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.

Researchers from MedGenome, Genentech, and multiple international institutions found potentially actionable alterations in more than 200 gallbladder cancer samples.

In Science this week: machine learning model predicts whether ion channel mutations will cause disease, and more.

Exome sequencing and case-control analyses on hundreds of stillborn cases led to more than a dozen apparent risk genes and additional loss-of-function intolerant genes.

Exome sequencing had lower sensitivity and specificity for finding inborn errors of metabolism than conventional screening, but appeared to refine mass spec-based results.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.