Two new studies found that prenatal whole-exome sequencing could uncover clinically significant variants in an additional 8 to 12 percent of fetuses with structural anomalies.
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 man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.
The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.
Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.
In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.