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Blood-Based 'Omics Signatures Reflect 'Biological' BMI, Metabolic Health

Mon, 03/20/2023 - 12:08

Features found in the blood offered a more refined look at obesity and related conditions, shifting more readily than body mass index in response to lifestyle changes.

Oxford Nanopore Technologies, 4bases Collaborate to Develop Rapid BRCA Sequencing Test

Mon, 03/20/2023 - 11:37

The partners will combine 4bases’ PCR amplification kits with nanopore sequencing to develop a same-day sample-to-answer assay for the BRCA1 and BRCA2 genes.

Illumina Pushes Back Against Icahn's Proposed Board Nominees

Mon, 03/20/2023 - 07:45

The company issued a defense of its management and board while striking back against Carl Icahn’s recent comments and moves to start a proxy fight for the firm's board of directors.

Sick Newborns Selected for WGS With Automated Pipeline

Mon, 03/20/2023 - 07:25

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.

Acne-Linked Loci Found Through GWAS Meta-Analysis

Mon, 03/20/2023 - 07:23

Researchers in the European Journal of Human Genetics find new and known acne vulgaris risk loci with a genome-wide association study and meta-analysis, highlighting hair follicle- and metabolic disease-related genes.

Top Five Articles on GenomeWeb Last Week: Icahn and Illumina, High-Accuracy Sequencing, ACMG, More

Mon, 03/20/2023 - 07:23

Last week, GenomeWeb's readers were most interested in Carl Icahn's plan to install three new Illumina board members in order to speed up the Grail divestiture.

Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

Mon, 03/20/2023 - 07:22

A team from China turns to prime editing to correct a retinitis pigmentosa-causing mutation in the PDE6b gene in a mouse model of the progressive photoreceptor loss condition in the Journal of Experimental Medicine.

Genetic Causes of Three Rare Diseases Identified From UK 100K Genomes Data by Mount Sinai-led Team

Mon, 03/20/2023 - 07:19

The study is one of the largest on rare diseases and could pave the way for better diagnosis and treatments, according to the researchers.

Cue Health Gets FDA EUA for Monkeypox Molecular Test

Mon, 03/20/2023 - 07:11

The nucleic acid amplification test returns results in 25 minutes and is authorized for use in professional point-of-care settings. 

DiaSorin Gets FDA 510(k) for Molecular COVID-19/Flu Assay

Mon, 03/20/2023 - 07:00

The real-time RT-PCR Simplexa COVID-19 & Flu A/B Direct assay is designed for use on the company's Liaison MDX instrument, with results in about one hour.

ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening

Mon, 03/20/2023 - 05:27

The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.

Tibetan Plateau Population Relationships, Adaptations Assessed With Ancient Genomes

Fri, 03/17/2023 - 11:06

With new sequences for 89 ancient individuals, researchers identified shared and distinct ancestry patterns within Tibetan Plateau populations going back 5,100 years.

Advanced Cancer Outcomes Predicted Using Model Based on Circulating Tumor DNA Metrics

Fri, 03/17/2023 - 10:18

Researchers developed a ctDNA-based machine learning model for predicting metastatic non-small cell lung cancer response to immunotherapy and related survival outcomes.

People in the News at Invitae, Resolve Biosciences, 54gene, Arima Genomics, Accelerate Diagnostics

Fri, 03/17/2023 - 08:30

Executive and academic appointments, promotions, and departures in omics and molecular diagnostics for the week of March 13, 2023.

New Products Posted to GenomeWeb: Illumina, NeoGenomics, Bionano Laboratories

Fri, 03/17/2023 - 08:30

New products and services posted to GenomeWeb for the week of March 13, 2023

Labcorp Acquiring Enzo Biochem's Clinical Lab Business for $146M

Fri, 03/17/2023 - 06:38

The sale is part of a restructuring initiative that Enzo Biochem launched in 2022 to concentrate on its life science business segment.

ACMG: Rare Disease Patients in Poor Countries See Benefit from Clinical Whole-Genome Sequencing

Fri, 03/17/2023 - 06:31

Patients in Illumina's global iHope philanthropic clinical WGS program saw changes in their management regardless of whether they lived in wealthy or poor countries.

Healthy Oregon Project Reports at ACMG on Population Genetic Screening Efforts

Fri, 03/17/2023 - 06:28

The project has screened more than 17,000 participants for inherited genetic disorders, particularly hereditary cancer syndromes and familial hypercholesterolemia.

CRISPR Screens Reveal Heart Attack-Linked Gene

Fri, 03/17/2023 - 06:05

Researchers in PLOS Genetics have used CRISPR screens to home in on variants associated with coronary artery disease that affect vascular endothelial function.

Meta AI Computer Model Rapidly Predicts Hundreds of Millions of Metagenomic Proteins

Fri, 03/17/2023 - 06:00

Meta AI researchers describe in Science a new large language model that can predict the structures of millions of metagenomic proteins.