[HTML][HTML] A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Y Cui, W Ye, JS Li, JJ Li, E Vilain, T Sallam, W Li - Cell, 2024 - cell.com
Summary The Genome Aggregation Database (gnomAD), widely recognized as the gold-
standard reference map of human genetic variation, has largely overlooked tandem repeat …

Profiling the genome-wide landscape of tandem repeat expansions

N Mousavi, S Shleizer-Burko, R Yanicky… - Nucleic acids …, 2019 - academic.oup.com
Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases,
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …

Benchmarking of small and large variants across tandem repeats

A English, E Dolzhenko, H Ziaei-Jam, ND Olson… - bioRxiv, 2023 - biorxiv.org
Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits, and are linked to over 60 disease phenotypes. However, their …

Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences

T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

[HTML][HTML] A landscape of complex tandem repeats within individual human genomes

K Ichikawa, R Kawahara, T Asano… - Nature …, 2023 - nature.com
Markedly expanded tandem repeats (TRs) have been correlated with~ 60 diseases. TR
diversity has been considered a clue toward understanding missing heritability. However …

Analysis and benchmarking of small and large genomic variants across tandem repeats

AC English, E Dolzhenko, H Ziaei Jam… - Nature …, 2024 - nature.com
Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

Resolving the unsolved: comprehensive assessment of tandem repeats at scale

E Dolzhenko, A English, H Dashnow… - bioRxiv, 2023 - biorxiv.org
Tandem repeat (TR) variation is associated with gene expression changes and over 50 rare
monogenic diseases. Recent advances in sequencing have enabled accurate, long reads …

The role of tandem repeat expansions in brain disorders

MA Panoyan, FR Wendt - Emerging Topics in Life Sciences, 2023 - portlandpress.com
The human genome contains numerous genetic polymorphisms contributing to different
health and disease outcomes. Tandem repeat (TR) loci are highly polymorphic yet under …

[HTML][HTML] Non-canonical RNA-DNA differences and other human genomic features are enriched within very short tandem repeats

H Yu, S Zhao, S Ness, H Kang, Q Sheng… - PLoS computational …, 2020 - journals.plos.org
Very short tandem repeats bear substantial genetic, evolutional, and pathological
significance in genome analyses. Here, we compiled a census of tandem mono …

[HTML][HTML] Large scale in silico characterization of repeat expansion variation in human genomes

S Fazal, MC Danzi, VP Cintra, DM Bis-Brewer… - Scientific data, 2020 - nature.com
Significant progress has been made in elucidating single nucleotide polymorphism diversity
in the human population. However, the majority of the variation space in the genome is …