Cancer epigenetics in clinical practice

V Davalos, M Esteller - CA: a cancer journal for clinicians, 2023 - Wiley Online Library
Cancer development is driven by the accumulation of alterations affecting the structure and
function of the genome. Whereas genetic changes disrupt the DNA sequence, epigenetic …

[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications

Y Wang, Y Zhao, A Bollas, Y Wang, KF Au - Nature biotechnology, 2021 - nature.com
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

[HTML][HTML] 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 …

Multiple rereads of single proteins at single–amino acid resolution using nanopores

H Brinkerhoff, ASW Kang, J Liu, A Aksimentiev… - Science, 2021 - science.org
A proteomics tool capable of identifying single proteins would be important for cell biology
research and applications. Here, we demonstrate a nanopore-based single-molecule …

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 …

[HTML][HTML] 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 …

[HTML][HTML] Telomere-to-telomere assembly of a complete human X chromosome

KH Miga, S Koren, A Rhie, MR Vollger, A Gershman… - Nature, 2020 - nature.com
After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Examining horizontal gene transfer in microbial communities

IL Brito - Nature Reviews Microbiology, 2021 - nature.com
Bacteria acquire novel DNA through horizontal gene transfer (HGT), a process that enables
an organism to rapidly adapt to changing environmental conditions, provides a competitive …

Integrative single-cell analysis

T Stuart, R Satija - Nature reviews genetics, 2019 - nature.com
The recent maturation of single-cell RNA sequencing (scRNA-seq) technologies has
coincided with transformative new methods to profile genetic, epigenetic, spatial, proteomic …

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 …