[HTML][HTML] 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 …

[HTML][HTML] A draft human pangenome reference

WW Liao, M Asri, J Ebler, D Doerr, M Haukness… - Nature, 2023 - nature.com
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

[HTML][HTML] Recombination between heterologous human acrocentric chromosomes

A Guarracino, S Buonaiuto, LG de Lima, T Potapova… - Nature, 2023 - nature.com
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 …

Building pangenome graphs

E Garrison, A Guarracino, S Heumos, F Villani, Z Bao… - bioRxiv, 2023 - biorxiv.org
Pangenome graphs can represent all variation between multiple genomes, but existing
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

S Diab, A Nassereldine, M Alser, J Gómez Luna… - …, 2023 - academic.oup.com
Motivation Sequence alignment is a memory bound computation whose performance in
modern systems is limited by the memory bandwidth bottleneck. Processing-in-memory …

Gmx: Instruction set extensions for fast, scalable, and efficient genome sequence alignment

M Doblas, O Lostes-Cazorla, Q Aguado-Puig… - Proceedings of the 56th …, 2023 - dl.acm.org
Sequence alignment remains a fundamental problem in computer science with practical
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

A Haghi, S Marco-Sola, L Alvarez… - Future Generation …, 2023 - Elsevier
In the last years, advances in genome sequencing technologies have enabled the
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

H Mao, M Alser, M Sadrosadati, C Firtina… - 2022 55th IEEE/ACM …, 2022 - ieeexplore.ieee.org
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 …

[PDF][PDF] Scrooge: a fast and memory-frugal genomic sequence aligner for CPUs, GPUs, and ASICs

J Lindegger, D Senol Cali, M Alser… - …, 2023 - academic.oup.com
Motivation Pairwise sequence alignment is a very time-consuming step in common
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 …