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 …
Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …
emerged as powerful players in genomics. With the ability to generate reads tens to …
Opportunities and challenges in long-read sequencing data analysis
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …
broadening their application domains in genomics. Dedicated analysis tools that take into …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
The third revolution in sequencing technology
EL Van Dijk, Y Jaszczyszyn, D Naquin, C Thermes - Trends in Genetics, 2018 - cell.com
Forty years ago the advent of Sanger sequencing was revolutionary as it allowed complete
genome sequences to be deciphered for the first time. A second revolution came when next …
genome sequences to be deciphered for the first time. A second revolution came when next …
A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …
methods have been developed for the discovery and analysis of structural variants (SVs) …
Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Accurate detection of complex structural variations using single-molecule sequencing
Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has …
understood because of technological limitations. Single-molecule long-read sequencing has …
A robust benchmark for detection of germline large deletions and insertions
New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
S Ardui, A Ameur, JR Vermeesch… - Nucleic acids …, 2018 - academic.oup.com
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the
medical setting. However, short read technologies have inherent limitations such as GC …
medical setting. However, short read technologies have inherent limitations such as GC …