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A Baylor study compared 25 algorithms in terms of their ability to characterize missense variants and found significant disagreement in their predictions.
In Genome Biology this week: new hot pepper reference genomes, comparison of variant classification algorithms, and more.
CEO Anders Rylander said the company will initially market its DiviTum assay for breast cancer cases, though it could be used to monitor cell proliferation in all cancer types.
In PNAS this week: three-dimensional chromosome structure, ovarian cancer immunopeptidome, and more.
A new consensus report suggests RB1 testing and genetic counseling to stratify risk and guide ophthalmic screening in kids with affected family members.
Researchers retrospectively analyzed data for 278 critically ill infants tested by clinical exome sequencing at a Texas hospital over five years.
Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.
The ancestors of the Arizona bark scorpion and other scorpions and spiders underwent whole-genome duplication, KJZZ reports.
The consortium aims to advance the use of genomics in the clinic, with a particular focus on diverse and underserved patient populations.
In Cell this week: DNA methylation and T cell exhaustion, longevity in C. elegans, and more.
Politico reports that the NYPD DNA database has grown since it announced it would be removing profiles from it.
Forbes reports that a structural biology lab at Oxford University studying the coronavirus was hacked.
Science reports that a Dutch research funding agency is combating a ransomware attack.
In Science this week: set of 64 haplotype assemblies from 32 individuals, and more.