In Cell this week: sequencing to understand medulloblastoma metastases, genome and transcriptome implicates TAP1 in X-linked Dystonia-Parkinsonism, and more.
Researchers discovered thousands of candidate functional elements by searching diverse mammalian genomes for regions of accelerated evolution within highly conserved sites.
Researchers found rare mutations in USP45 and ARID1A by applying a shared genomic segment mapping approach to several large multiple myeloma-affected families.
The Deseret News reports that families with children with rare genetic diseases are cautiously optimistic about CRISPR-based gene editing as a treatment.
Results from a randomized clinical trial known as GIFT suggest that genotype-guided warfarin dosing is linked to fewer adverse events than clinical dosing.
The Washington State University and the University of Utah researchers said epigenetic variation may contribute to environmental adaptation in the birds.
Researchers found that about 17 percent of sporadic amyotrophic lateral sclerosis patients harbor at least one deleterious rare variant or repeat expansion.
