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Tay-Sachs disease

Axovant, Invitae Launch Free Genetic Testing Program for Lysosomal Storage Diseases

Invitae will provide free genetic testing on a 53-gene panel and counseling to patients suspected of having an LSD to facilitate earlier diagnosis and appropriate treatment.

NSGC Presentation Highlights Importance of Carrier Testing in Jewish Individuals From Non-Ashkenazi Populations

Carrier testing results suggest that more than 25 percent of Sephardic, Mizrahi, and Persian Jewish individuals may also carry recessive disease-causing alleles.

Counsyl, ARUP Team on Genetic Testing

NEW YORK (GenomeWeb News) – Genetic testing firm Counsyl has partnered with ARUP Laboratories to offer pre-pregnancy and pregnancy testing for more than 100 recessive genetic disorders.

NCGR, Beyond Batten Foundation Mull Next-Gen Sequencing for Carrier Screening Test
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The partners are deciding whether to run the multiplex test on a microarray or a sequencing platform. Factors in the decision include the complexity of the test and the technical feasibility of multiplexed, targeted resequencing.
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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.