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COMMENT To some extent, repeat expansions have been the dark matter of human disease. They are generally missed by SNP arrays and by short-read sequencing technologies and it is only with long-read sequencing we can see them and also appreciate their high mutatio
RESEARCH NEWS 2025-02-12 Research News Expanded repetitive sequences are infamous for causing inherited disease. Think poly-Q tracts that cause Huntington’s or the C9orf72 hexanucleotide run-ons that trigger ALS/FTD. However, given people have an estimated 1 million short tandem
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PAPER Wang H, Xing J, Grover D, Hedges DJ, Han K, Walker JA, Batzer MA
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