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This Week in Genome Research: Apr 29, 2015

By sequencing protein-coding portions of the genome in nearly 200 mouse disease model strains, researchers from the US, Switzerland, and Jordan uncovered new pathogenic mutations that appear to contribute to many Mendelian conditions. The team focused on 172 mouse strains, each representing a Mendelian disorder that had arisen through spontaneous mutation in a given strain. When they sequenced the exomes of these mice and ran the resulting sequences through a new analytic pipeline, the study's authors uncovered apparent pathogenic mutations in 91 of the mouse strains and found clues suggesting structural glitches may contribute to a large proportion of the remaining cases.

Researchers from the Netherlands and elsewhere used whole-genome sequences from members of 250 families to characterize de novo structural variations and small insertions and deletions in the population. Within these families, which included 258 children, the team tracked down 332 structural variants or indels not detected in parents. The changes spanned more than 4,000 bases apiece, on average, or around 29 protein-coding DNA bases per generation, according to the study's authors, who noted that new structural alterations were more common on haplotypes inherited by fathers.

A team from Duke University did genome sequencing, high-quality de novo assembly, and annotation on 93 Saccharomyces cerevisiae strains, bringing the number of sequenced strains up to 100. With this resource, dubbed the 100-genomes strains, the researchers assessed everything from phenotypic variation between yeast strains to yeast features associated with clinical contributions and more. "The 100-genomes strains are a novel, multipurpose resource to advance the study of S. cerevisiae population genetics, quantitative genetics, and the emergence of an opportunistic pathogen," the study's authors say.

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.