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] Long-read sequencing emerging in medical genetics

T Mantere, S Kersten, A Hoischen - Frontiers in genetics, 2019 - frontiersin.org
The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

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 …

[HTML][HTML] The third generation sequencing: the advanced approach to genetic diseases

T Xiao, W Zhou - Translational pediatrics, 2020 - ncbi.nlm.nih.gov
Genomic sequencing technologies have revolutionized mutation detection of the genetic
diseases in the past few years. In recent years, the third generation sequencing (TGS) has …

Single-molecule sequencing: towards clinical applications

A Ameur, WP Kloosterman, MS Hestand - Trends in biotechnology, 2019 - cell.com
In the past several years, single-molecule sequencing platforms, such as those by Pacific
Biosciences and Oxford Nanopore Technologies, have become available to researchers …

[HTML][HTML] Familial long-read sequencing increases yield of de novo mutations

MD Noyes, WT Harvey, D Porubsky, A Sulovari… - The American Journal of …, 2022 - cell.com
Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and
complex regions of the genome because these regions cannot be unambiguously mapped …

[HTML][HTML] Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease …

SE de Bruijn, K Rodenburg, J Corominas… - Genetics in …, 2023 - Elsevier
Abstract Purpose Structural variants (SVs) play an important role in inherited retinal
diseases (IRD). Although the identification of SVs significantly improved upon the availability …

Comprehensive de novo mutation discovery with HiFi long-read sequencing

E Kucuk, BPGH van der Sanden, L O'Gorman… - Genome Medicine, 2023 - Springer
Background Long-read sequencing (LRS) techniques have been very successful in
identifying structural variants (SVs). However, the high error rate of LRS made the detection …

Long-read sequencing for rare human genetic diseases

S Mitsuhashi, N Matsumoto - Journal of Human Genetics, 2020 - nature.com
During the past decade, the search for pathogenic mutations in rare human genetic
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …

Biodegradation of chlortetracycline by Bacillus cereus LZ01: Performance, degradative pathway and possible genes involved

S Zhang, J Wang - Journal of hazardous materials, 2022 - Elsevier
Microbial degradation of chlortetracycline (CTC) is an effective bioremediation method. In
the present study, an enrichment technique was used to isolate a Bacillus cereus LZ01 …