A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
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 …

Long-read human genome sequencing and its applications

GA Logsdon, MR Vollger, EE Eichler - Nature Reviews Genetics, 2020 - nature.com
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 …

Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

Structural variation in the sequencing era

SS Ho, AE Urban, RE Mills - Nature Reviews Genetics, 2020 - nature.com
Identifying structural variation (SV) is essential for genome interpretation but has been
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 …

A survey of algorithms for the detection of genomic structural variants from long-read sequencing data

MU Ahsan, Q Liu, JE Perdomo, L Fang, K Wang - Nature Methods, 2023 - nature.com
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) …

Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
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 …

Accurate detection of complex structural variations using single-molecule sequencing

FJ Sedlazeck, P Rescheneder, M Smolka, H Fang… - Nature …, 2018 - nature.com
Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has …

A robust benchmark for detection of germline large deletions and insertions

JM Zook, NF Hansen, ND Olson, L Chapman… - Nature …, 2020 - nature.com
New technologies and analysis methods are enabling genomic structural variants (SVs) to
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 …