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New Tool for Short Tandem Repeat Expansion Detection

A computational tool for detecting both novel and reference short tandem repeat (STR) expansions, including pathogenic ones, is presented in Genome Biology this week. Expansions of STRs have been identified as the cause of rare Mendelian diseases such as Huntington's disease but detecting them with short-read DNA sequencing data remains a challenge since supporting reads are often mapped incorrectly. To address this, a team led by University of Utah scientists developed STRling. The software, they write, calls alleles both within the read length and greater than the read length, is capable of accurately detecting the genomic position of expansions and can discover and jointly call STRs in thousands of individuals, then prioritize alleles that are large outliers in a given individual. STRling is open source and freely available.

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.