The emerging role of tandem repeats in complex traits

M Lamkin, M Gymrek - Nature Reviews Genetics, 2024 - nature.com
Tandem repeats are a large source of genetic variation but are challenging to analyse and
have been missing from most genome-wide studies. Results now suggest that systematic …

Medically relevant tandem repeats in nanopore sequencing of control cohorts

W De Coster, I Hoijer, I Bruggeman, S D'Hert, M Melin… - medRxiv, 2024 - medrxiv.org
Research and diagnostics for medically relevant tandem repeats and repeat expansions are
hampered by the lack of population-scale databases. We attempt to fill this gap using our …

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

L Hiatt, B Weisburd, E Dolzhenko, GE VanNoy… - medRxiv, 2024 - medrxiv.org
Approximately 3% of the human genome consists of repetitive elements called tandem
repeats (TRs), which include short tandem repeats (STRs) of 1-6bp motifs and variable …