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 …
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 …
Characterization and visualization of tandem repeats at genome scale
Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
A deep population reference panel of tandem repeat variation
Tandem repeats (TRs) represent one of the largest sources of genetic variation in humans
and are implicated in a range of phenotypes. Here we present a deep characterization of TR …
and are implicated in a range of phenotypes. Here we present a deep characterization of TR …
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 …
TRTools: a toolkit for genome-wide analysis of tandem repeats
A rich set of tools have recently been developed for performing genome-wide genotyping of
tandem repeats (TRs). However, standardized tools for downstream analysis of these results …
tandem repeats (TRs). However, standardized tools for downstream analysis of these results …
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 …
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 …
Detecting and annotating genetic variations using the HugeSeq pipeline
indexed for rapid and random access using SAMtools. Because most variant detections are
intrachromosomal, the detection process can be carried out on each chromosomal BAM …
intrachromosomal, the detection process can be carried out on each chromosomal BAM …
Statistical approaches to detecting and analyzing tandem repeats in genomic sequences
M Anisimova, J Pečerska, E Schaper - Frontiers in bioengineering …, 2015 - frontiersin.org
Tandem repeats (TRs) are frequently observed in genomes across all domains of life.
Evidence suggests that some TRs are crucial for proteins with fundamental biological …
Evidence suggests that some TRs are crucial for proteins with fundamental biological …