Research graph
References from A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples. Local targets link to admitted publications; unresolved targets remain external evidence.
Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat
10.1086/301869 · 1998 · External reference
Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data
10.1038/ejhg.2010.154 · 2010 · External reference
The landscape of human STR variation
10.1101/gr.177774.114 · 2014 · External reference
A genomic view of short tandem repeats
10.1016/j.gde.2017.01.012 · 2017 · External reference
Tandem repeats mediating genetic plasticity in health and disease
10.1038/nrg.2017.115 · 2018 · External reference
Repeat expansion diseases
10.1016/b978-0-444-63233-3.00009-9 · 2018 · External reference
Unresolved reference
2018 · External reference
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
10.1056/nejmoa1806627 · 2019 · External reference
Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for ’missing heritability’.
10.1016/j.tig.2009.11.008 · 2010 · External reference
Genome-wide detection of tandem DNA repeats that are expanded in autism
10.1038/s41586-020-2579-z · 2020 · External reference
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.
2024 · External reference
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
10.1038/79911 · 2000 · External reference
A polymorphic microsatellite that mediates induction of PIG3 by p53
10.1038/ng836 · 2002 · External reference
Abundant contribution of short tandem repeats to gene expression variation in humans
10.1038/ng.3461 · 2015 · External reference
The impact of short tandem repeat variation on gene expression
10.1038/s41588-019-0521-9 · 2019 · External reference
A reference haplotype panel for genome-wide imputation of short tandem repeats.
2018 · External reference
lobSTR: A short tandem repeat profiler for personal genomes
10.1101/gr.135780.111 · 2012 · External reference
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
2012 · External reference
Genome-wide profiling of heritable and de novo STR variations
10.1038/nmeth.4267 · 2017 · External reference
Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved].
10.12688/f1000research.13980.1 · 2018 · External reference
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
10.1186/s13059-020-02017-z · 2020 · External reference
STRetch: Detecting and discovering pathogenic short tandem repeat expansions
10.1186/s13059-018-1505-2 · 2018 · External reference
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
2022 · External reference
Detection of long repeat expansions from PCR-free whole-genome sequence data
10.1101/gr.225672.117 · 2017 · External reference
Profiling the genome-wide landscape of tandem repeat expansions
10.1093/nar/gkz501 · 2019 · External reference
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
2016 · External reference
High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
2021 · External reference
Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches
2016 · External reference
Qualimap: evaluating next-generation sequencing alignment data.
2012 · External reference
Twelve years of SAMtools and BCFtools
2024 · External reference
TRTools: a toolkit for genome-wide analysis of tandem repeats.
2020 · External reference
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
10.1038/s41587-019-0201-4 · 2019 · External reference
Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates
10.1016/j.ajhg.2016.04.001 · 2016 · External reference
Genetics and genomics of core short tandem repeat loci used in human identity testing
10.1111/j.1556-4029.2006.00046.x · 2006 · External reference
Genetic variation and differentiation among a native British and five migrant South Asian populations of the East Midlands (UK) based on CODIS forensic STR loci.
10.1080/03014460.2020.1797162 · 2020 · External reference
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
10.1016/j.neuron.2011.09.011 · 2011 · External reference
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-
2011 · External reference
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
2021 · External reference
ExpansionHunter: A sequence-graph-based tool to analyze variation in short tandem repeat regions
10.1093/bioinformatics/btz431 · 2019 · External reference
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
10.1016/j.ajhg.2018.10.015 · 2018 · External reference
Analysis and comparison of the STR genotypes called with HipSTR, STRait Razor and toaSTR by using next generation sequencing data in a Brazilian population sample
2022 · External reference
Dante: genotyping of known complex and expanded short tandem repeats.
2018 · External reference
