[HTML][HTML] 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 …
[PDF][PDF] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …
which are polymorphic by nature and become highly unstable in a length-dependent …
[PDF][PDF] 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 …
The genetics of epilepsy
P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
[PDF][PDF] Genomic analysis in the age of human genome sequencing
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
We describe a novel computational method for genotyping repeats using sequence graphs.
This method addresses the long-standing need to accurately genotype medically important …
This method addresses the long-standing need to accurately genotype medically important …
[PDF][PDF] Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing
molecular diagnostics and clinical medicine. However, these approaches have proven …
molecular diagnostics and clinical medicine. However, these approaches have proven …
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 …
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 …
[HTML][HTML] ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …