The Missing Pieces of the Marmoset Genome
August 25, 2026
Researchers resolve previously inaccessible regions linked to immunity, disease modeling, and variant analysis
4 min read
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Genetics and epigenetics
Could Omics Improve Fabry Disease Diagnosis?
August 24, 2026
Researchers examine how molecular profiling could help identify organ injury that conventional testing may miss
3 min read
A Closer Look at the Complete Genome
August 20, 2026
The HG002 resource expands accuracy assessment into sex chromosomes and structurally complex genomic regions
3 min read
A Mother's Search for Answers
August 19, 2026
By Jessica Allerton
How one family's experience is helping improve awareness, research, and care for people living with rare diseases
4 min read
Your Genes May Shape Tumor Evolution
August 19, 2026
Mouse study links inherited genetics to driver mutation selection, genome stability, and tumor evolution
3 min read
New Clues to Crohn's Genetic Risk
August 18, 2026
High-resolution mapping in type 3 innate lymphoid cells uncovered both established and previously unrecognized candidate disease genes
3 min read
Hidden Pitfalls in MET Exon 14 Testing
August 17, 2026
Large cohort study examines limitations of DNA- and RNA-based sequencing in routine diagnostics
3 min read
The Gene That Helps Cancer Travel
August 7, 2026
Study suggests calretinin expression reflects tumor adaptation to bloodstream forces rather than Gleason grade
3 min read
Why Rare Diseases Need Long Reads
August 3, 2026
By Jessica Allerton
Long-read genome sequencing could replace multiple genetic tests with a single comprehensive assay
4 min read
Can AI Shorten the Rare Disease Odyssey?
July 31, 2026
Emerging tools are helping identify disease-causing variants and supporting genomic and pathology-based diagnosis
2 min read
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