Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …
often used in forensics and population genetics and are also the underlying cause of many …
Sequencing and characterizing short tandem repeats in the human genome
HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
Short tandem repeats (STRs) are implicated in dozens of human genetic diseases and
contribute significantly to genome variation and instability. Yet profiling STRs from short-read …
contribute significantly to genome variation and instability. Yet profiling STRs from short-read …
[HTML][HTML] WebSTR: a population-wide database of short tandem repeat variation in humans
Short tandem repeats (STRs) are consecutive repetitions of one to six nucleotide motifs.
They are hypervariable due to the high prevalence of repeat unit insertions or deletions …
They are hypervariable due to the high prevalence of repeat unit insertions or deletions …
The landscape of human STR variation
Short tandem repeats are among the most polymorphic loci in the human genome. These
loci play a role in the etiology of a range of genetic diseases and have been frequently …
loci play a role in the etiology of a range of genetic diseases and have been frequently …
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data
A Halman, E Dolzhenko, A Oshlack - Human Mutation, 2022 - Wiley Online Library
Expansions of short tandem repeats (STRs) have been implicated as the causal variant in
over 50 diseases known to date. There are several tools which can genotype STRs from …
over 50 diseases known to date. There are several tools which can genotype STRs from …
Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data
RM Tankard, MF Bennett, P Degorski… - The American Journal of …, 2018 - cell.com
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …
These can present with overlapping clinical phenotypes, making molecular diagnosis …
lobSTR: a short tandem repeat profiler for personal genomes
Short tandem repeats (STRs) have a wide range of applications, including medical genetics,
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …
Population-scale sequencing data enable precise estimates of Y-STR mutation rates
Short tandem repeats (STRs) are mutation-prone loci that span nearly 1% of the human
genome. Previous studies have estimated the mutation rates of highly polymorphic STRs by …
genome. Previous studies have estimated the mutation rates of highly polymorphic STRs by …
A genomic view of short tandem repeats
M Gymrek - Current opinion in genetics & development, 2017 - Elsevier
Short tandem repeats (STRs) are some of the fastest mutating loci in the genome. Tools for
accurately profiling STRs from high-throughput sequencing data have enabled genome …
accurately profiling STRs from high-throughput sequencing data have enabled genome …