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.
In Cell this week: structural variants affecting regulatory loci in prostate cancer, immune features in the breast cancer microenvironment, and more.
Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.
Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.
The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.
Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.
In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.