[HTML][HTML] 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 …
[HTML][HTML] A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
[HTML][HTML] Recombination between heterologous human acrocentric chromosomes
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …
large homologous regions, including ribosomal DNA repeats and extended segmental …
Building pangenome graphs
Pangenome graphs can represent all variation between multiple genomes, but existing
methods for constructing them are biased due to reference-guided approaches. In response …
methods for constructing them are biased due to reference-guided approaches. In response …
A framework for high-throughput sequence alignment using real processing-in-memory systems
Motivation Sequence alignment is a memory bound computation whose performance in
modern systems is limited by the memory bandwidth bottleneck. Processing-in-memory …
modern systems is limited by the memory bandwidth bottleneck. Processing-in-memory …
Gmx: Instruction set extensions for fast, scalable, and efficient genome sequence alignment
Sequence alignment remains a fundamental problem in computer science with practical
applications ranging from pattern matching to computational biology. The ever-increasing …
applications ranging from pattern matching to computational biology. The ever-increasing …
WFA-FPGA: An efficient accelerator of the wavefront algorithm for short and long read genomics alignment
In the last years, advances in genome sequencing technologies have enabled the
proliferation of genomic applications that guide personalized medicine. These applications …
proliferation of genomic applications that guide personalized medicine. These applications …
Genpip: In-memory acceleration of genome analysis via tight integration of basecalling and read mapping
Nanopore sequencing is a widely-used high-throughput genome sequencing technology
that can sequence long fragments of a genome into raw electrical signals at low cost …
that can sequence long fragments of a genome into raw electrical signals at low cost …
[PDF][PDF] Scrooge: a fast and memory-frugal genomic sequence aligner for CPUs, GPUs, and ASICs
Motivation Pairwise sequence alignment is a very time-consuming step in common
bioinformatics pipelines. Speeding up this step requires heuristics, efficient implementations …
bioinformatics pipelines. Speeding up this step requires heuristics, efficient implementations …
Block Aligner: an adaptive SIMD-accelerated aligner for sequences and position-specific scoring matrices
D Liu, M Steinegger - Bioinformatics, 2023 - academic.oup.com
Motivation Efficiently aligning sequences is a fundamental problem in bioinformatics. Many
recent algorithms for computing alignments through Smith–Waterman–Gotoh dynamic …
recent algorithms for computing alignments through Smith–Waterman–Gotoh dynamic …