University of Utah

This Week in Cell

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.

Some Guarded Hope

The Deseret News reports that families with children with rare genetic diseases are cautiously optimistic about CRISPR-based gene editing as a treatment.

This Week in Nature

In Nature this week: a genomics search engine, and more.

Living DNA and its partners are aiming to create a detailed genetic map of the world based on people's DNA.

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.

This Week in PNAS

In PNAS this week: allele-sharing patterns of ancient hominins, protein-inactivating changes among lab mice, and more.

Researchers found that about 17 percent of sporadic amyotrophic lateral sclerosis patients harbor at least one deleterious rare variant or repeat expansion.

Pages

What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.

A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.

Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more.