Biological roles of adenine methylation in RNA

K Boulias, EL Greer - Nature Reviews Genetics, 2023 - nature.com
Abstract N 6-Methyladenosine (m6A) is one of the most abundant modifications of the
epitranscriptome and is found in cellular RNAs across all kingdoms of life. Advances in …

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 …

Systematic comparison of tools used for m6A mapping from nanopore direct RNA sequencing

ZD Zhong, YY Xie, HX Chen, YL Lan, XH Liu… - Nature …, 2023 - nature.com
Abstract N6-methyladenosine (m6A) has been increasingly recognized as a new and
important regulator of gene expression. To date, transcriptome-wide m6A detection primarily …

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 …

Overview of next‐generation sequencing technologies

BE Slatko, AF Gardner… - Current protocols in …, 2018 - Wiley Online Library
High throughput DNA sequencing methodology (next generation sequencing; NGS) has
rapidly evolved over the past 15 years and new methods are continually being …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

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 …

Genomics in the long-read sequencing era

EL van Dijk, D Naquin, K Gorrichon, Y Jaszczyszyn… - Trends in Genetics, 2023 - cell.com
Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …