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In PNAS this week: features linked to coronavirus pathogenicity, multi-system syndrome linked to RNA modification-linked mutations, and more.
The researchers combined a linkage analysis followed by whole-genome sequencing data to link the DLC1 gene to blood oxygen levels during sleep.
With long-read sequencing, mapping, and other approaches, researchers assembled a high-quality genome for Aedes aegypti, a notorious infectious disease vector.
Based on the results, RAB10 could be a promising therapeutic target for the prevention of Alzheimer's.
Researchers applied a SNP heritability model called LDAK to genetic data for a range of human traits, uncovering relatively high levels of variance explained by SNPs.
A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.
In PNAS this week: AKT1 mutations in pulmonary sclerosing hemangioma, genomic study of hyper-virulence in Campylobacter jejuni, and more.
A mutation uncovered in a Belgian family through genetic analysis disrupts pyrin protein regulation to lead to an autoinflammatory disease.
An autosomal dominant form of vibratory urticaria has been linked to a missense mutation in the ADGRE2 gene that appears to affect mast cell function and inflammation.
The team built on a previous approach that used single-cell sequencing to screen for chromosomal abnormalities in embryos from couples undergoing IVF.
AstraZeneca has released its coronavirus vaccine trial protocol, according to the New York Times.
Time magazine looks into how liquid biopsies are changing cancer care.
According to the Guardian, more than 150 countries have signed on to a global SARS-CoV-2 vaccine plan.
In PNAS this week: similar muscle protein patterns across hypertrophic cardiomyopathy phenotypes, analysis of gene expression and brain anatomy in major depression, and more.