A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
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 …
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …
is challenging with short-read DNA sequencing data since supporting reads are often …
Molecular mechanisms in pentanucleotide repeat diseases
JR Loureiro, AF Castro, AS Figueiredo, I Silveira - Cells, 2022 - mdpi.com
The number of neurodegenerative diseases resulting from repeat expansion has increased
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …
The mutational dynamics of short tandem repeats in large, multigenerational families
Abstract Background Short tandem repeats (STRs) compose approximately 3% of the
genome, and mutations at STR loci have been linked to dozens of human diseases …
genome, and mutations at STR loci have been linked to dozens of human diseases …
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 …
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
Bioinformatic methods for detecting short tandem repeat expansions in short-read
sequencing have identified new repeat expansions in humans, but require alignment …
sequencing have identified new repeat expansions in humans, but require alignment …