Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine 2026 Open access

Read full text

Authors: Saurav Guha, Indhu-Shree Rajan-Babu, Akanchha Kesari, Shreshtha Garg, Nancy C. Rose, Bryce A. Seifert, Honey V. Reddi

DOI: 10.1016/j.gim.2026.102520

Cited by: 1

References: 37

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Neurodegenerative Diseases Genomic variations and chromosomal abnormalities

References 37