Piercing the dark matter: bioinformatics of long-range sequencing and mapping
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 …
or long-range mapping with higher throughput and higher resolution analysis than ever …
Technology dictates algorithms: recent developments in read alignment
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 …
analysis pipelines. Computational algorithms for read alignment have evolved in …
Long-read mapping to repetitive reference sequences using Winnowmap2
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 …
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 …
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
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 …
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 …
questions that can be asked about gene function and regulation. With the goal of …
GSAlign: an efficient sequence alignment tool for intra-species genomes
Background Personal genomics and comparative genomics are becoming more important in
clinical practice and genome research. Both fields require sequence alignment to discover …
clinical practice and genome research. Both fields require sequence alignment to discover …
A long read mapping method for highly repetitive reference sequences
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 …
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
Background With the rapid increase in genome sequencing projects for non-model
organisms, numerous genome assemblies are currently in progress or available as drafts …
organisms, numerous genome assemblies are currently in progress or available as drafts …
Accelerating long read alignment on three processors
Sequence alignment is a fundamental task in bioinformatics, because many downstream
applications rely on it. The recent emergence of the third-generation sequencing technology …
applications rely on it. The recent emergence of the third-generation sequencing technology …