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.
In Science this week: genetic overlap among many psychiatric disorders, and more.
In Cell this week: interactions between malignant and immune cells in ovarian cancer, gene regulatory features in mouse macrophages, and more.
A Columbia University-led team used emergency contact information from medical records to create family trees and estimate disease heritability.
Science speaks with Columbia University's Yaniv Erlich about using genetic genealogical data to identify people.
This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.
The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.
Researchers find that people's genetics influence their success at university, but that it is not the only factor.
In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.