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 …
The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …
due for a major update. Its current structure is a linear composite of merged haplotypes from …
Multiplex de Bruijn graphs enable genome assembly from long, high-fidelity reads
Although most existing genome assemblers are based on de Bruijn graphs, the construction
of these graphs for large genomes and large k-mer sizes has remained elusive. This …
of these graphs for large genomes and large k-mer sizes has remained elusive. This …
Applications of long-read sequencing to Mendelian genetics
Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
Long-read DNA sequencing: recent advances and remaining challenges
PE Warburton, RP Sebra - Annual review of genomics and …, 2023 - annualreviews.org
DNA sequencing has revolutionized medicine over recent decades. However, analysis of
large structural variation and repetitive DNA, a hallmark of human genomes, has been …
large structural variation and repetitive DNA, a hallmark of human genomes, has been …
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 …
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 …
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
L AlAbdi, HE Shamseldin, E Khouj, R Helaby… - Genome medicine, 2023 - Springer
Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …
technical limitations of exome sequencing in ways not possible by short-read WGS …
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
S Miyatake, E Koshimizu, A Fujita, H Doi… - NPJ Genomic …, 2022 - nature.com
We developed a diagnostic method for repeat expansion diseases using a long-read
sequencer to improve currently available, low throughput diagnostic methods. We employed …
sequencer to improve currently available, low throughput diagnostic methods. We employed …