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Researchers Tally, Rank Mendelian Disease Genes With Pipeline Approach

In npj Genomic Medicine, researchers at the Chinese University of Hong Kong and elsewhere present a pipeline for "estimating and ranking" carrier frequencies related to recessively inherited or X-linked Mendelian conditions. Using whole-genome or exome sequences for diverse individuals in the Genome Aggregation Database, along with specific variant filtering and annotation steps, the team focused in on autosomal recessive disease variants in more than 2,500 genes and on almost 200 X-linked disease genes, establishing ancestry-specific variant carrier rates and gene ranks that were subsequently validated using whole-genome sequence data for tens of thousands more individuals from the Singapore 10K Genome Project, the China Metabolic Analytics Project, and the Westlake BioBank for Chinese pilot project. The approach "is readily adaptable to new genome-wide sequencing data and to prospective novel recessive genes," the authors write, noting that "carrier frequencies in a given population would be one of the most critically considered aspects for [newborn screening] and [expanded carrier screening]."

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 structural 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.