Piercing the dark matter: bioinformatics of long-range sequencing and mapping

FJ Sedlazeck, H Lee, CA Darby, MC Schatz - Nature Reviews Genetics, 2018 - nature.com
Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

Technology dictates algorithms: recent developments in read alignment

M Alser, J Rotman, D Deshpande, K Taraszka, H Shi… - Genome biology, 2021 - Springer
Aligning sequencing reads onto a reference is an essential step of the majority of genomic
analysis pipelines. Computational algorithms for read alignment have evolved in …

Long-read mapping to repetitive reference sequences using Winnowmap2

C Jain, A Rhie, NF Hansen, S Koren, AM Phillippy - Nature Methods, 2022 - nature.com
Abstract Approximately 5–10% of the human genome remains inaccessible due to the
presence of repetitive sequences such as segmental duplications and tandem repeat arrays …

Minimap2: pairwise alignment for nucleotide sequences

H Li - Bioinformatics, 2018 - academic.oup.com
Motivation Recent advances in sequencing technologies promise ultra-long reads of∼ 100
kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs …

A survey of mapping algorithms in the long-reads era

K Sahlin, T Baudeau, B Cazaux, C Marchet - Genome Biology, 2023 - Springer
It has been over a decade since the first publication of a method dedicated entirely to
mapping long-reads. The distinctive characteristics of long reads resulted in methods …

Mobile genomics: tools and techniques for tackling transposons

K O'Neill, D Brocks… - … Transactions of the …, 2020 - royalsocietypublishing.org
Next-generation sequencing approaches have fundamentally changed the types of
questions that can be asked about gene function and regulation. With the goal of …

GSAlign: an efficient sequence alignment tool for intra-species genomes

HN Lin, WL Hsu - BMC genomics, 2020 - Springer
Background Personal genomics and comparative genomics are becoming more important in
clinical practice and genome research. Both fields require sequence alignment to discover …

A long read mapping method for highly repetitive reference sequences

C Jain, A Rhie, N Hansen, S Koren, AM Phillippy - BioRxiv, 2020 - biorxiv.org
Abstract About 5-10% of the human genome remains inaccessible for functional analysis
due to the presence of repetitive sequences such as segmental duplications and tandem …

SQUAT: a Sequencing Quality Assessment Tool for data quality assessments of genome assemblies

LA Yang, YJ Chang, SH Chen, CY Lin, JM Ho - BMC genomics, 2019 - Springer
Background With the rapid increase in genome sequencing projects for non-model
organisms, numerous genome assemblies are currently in progress or available as drafts …

Accelerating long read alignment on three processors

Z Feng, S Qiu, L Wang, Q Luo - … of the 48th International Conference on …, 2019 - dl.acm.org
Sequence alignment is a fundamental task in bioinformatics, because many downstream
applications rely on it. The recent emergence of the third-generation sequencing technology …