[HTML][HTML] A genome-wide spectrum of tandem repeat expansions in 338,963 humans
Summary The Genome Aggregation Database (gnomAD), widely recognized as the gold-
standard reference map of human genetic variation, has largely overlooked tandem repeat …
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 …
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …
Benchmarking of small and large variants across tandem repeats
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 …
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 …
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 …
diversity has been considered a clue toward understanding missing heritability. However …
Analysis and benchmarking of small and large genomic variants across tandem repeats
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 …
associated molecular traits and are linked to over 60 disease phenotypes. However, they …
Resolving the unsolved: comprehensive assessment of tandem repeats at scale
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 …
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 …
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
Very short tandem repeats bear substantial genetic, evolutional, and pathological
significance in genome analyses. Here, we compiled a census of tandem mono …
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
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 …
in the human population. However, the majority of the variation space in the genome is …