A new analysis found kidney disease-related pathogenic or likely pathogenic variants in exomes for roughly 9 percent of individuals with chronic kidney disease.
The New York Department of Health-certified tests are based on proprietary algorithms licensed from Columbia University, which offers them in the US.
In PLOS this week: MYRF variant linked to congenital diaphragmatic hernia, analysis of the "dragon's blood" red resin produced by traditional medicine plants, and more.
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 identified immune activity changes in first-trimester placenta and decidua samples profiled through single-cell RNA sequencing.
The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.
The two papers published today in Science and Cell have implications for both forensics and genetic research.
An analysis of post-mortem brain transcripts led to Alzheimer's-related alternative gene splicing and expression events, including those influenced by known risk alleles.
Over the next four years, researchers will aim to pinpoint the impact of personal genomic information given to patients with autism and their families.
A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
Germany's Project DEAL has come to an agreement with the publisher Wiley over journal access and open-access publishing, ScienceInsider reports.
Researchers uncover additional loci associated with lifespan, which the Telegraph says could be folded into a genetic test.
A Canadian panel recommends public coverage of the gene therapy Kymriah if its cost comes down, the Globe and Mail reports.
In Nucleic Acids Research this week: new accurate quantification by sequencing approach, CNV breakpoints in Plasmodium falciparum, and more.