[HTML][HTML] From molecules to genomic variations: Accelerating genome analysis via intelligent algorithms and architectures

M Alser, J Lindegger, C Firtina, N Almadhoun… - Computational and …, 2022 - Elsevier
We now need more than ever to make genome analysis more intelligent. We need to read,
analyze, and interpret our genomes not only quickly, but also accurately and efficiently …

Polypolish: short-read polishing of long-read bacterial genome assemblies

RR Wick, KE Holt - PLoS computational biology, 2022 - journals.plos.org
Long-read-only bacterial genome assemblies usually contain residual errors, most
commonly homopolymer-length errors. Short-read polishing tools can use short reads to fix …

Trycycler: consensus long-read assemblies for bacterial genomes

RR Wick, LM Judd, LT Cerdeira, J Hawkey, G Méric… - Genome biology, 2021 - Springer
While long-read sequencing allows for the complete assembly of bacterial genomes, long-
read assemblies contain a variety of errors. Here, we present Trycycler, a tool which …

Efficient assembly of nanopore reads via highly accurate and intact error correction

Y Chen, F Nie, SQ **e, YF Zheng, Q Dai, T Bray… - Nature …, 2021 - nature.com
Long nanopore reads are advantageous in de novo genome assembly. However, nanopore
reads usually have broad error distribution and high-error-rate subsequences. Existing error …

Producing polished prokaryotic pangenomes with the Panaroo pipeline

G Tonkin-Hill, N MacAlasdair, C Ruis, A Weimann… - Genome biology, 2020 - Springer
Population-level comparisons of prokaryotic genomes must take into account the substantial
differences in gene content resulting from horizontal gene transfer, gene duplication and …

Cold decoding: Energy-based constrained text generation with langevin dynamics

L Qin, S Welleck, D Khashabi… - Advances in Neural …, 2022 - proceedings.neurips.cc
Many applications of text generation require incorporating different constraints to control the
semantics or style of generated text. These constraints can be hard (eg, ensuring certain …

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 …

Fast and accurate de novo genome assembly from long uncorrected reads

R Vaser, I Sović, N Nagarajan, M Šikić - Genome research, 2017 - genome.cshlp.org
The assembly of long reads from Pacific Biosciences and Oxford Nanopore Technologies
typically requires resource-intensive error-correction and consensus-generation steps to …

Truvari: refined structural variant comparison preserves allelic diversity

AC English, VK Menon, RA Gibbs, GA Metcalf… - Genome Biology, 2022 - Springer
The fundamental challenge of multi-sample structural variant (SV) analysis such as merging
and benchmarking is identifying when two SVs are the same. Common approaches for …

GenASM: A high-performance, low-power approximate string matching acceleration framework for genome sequence analysis

DS Cali, GS Kalsi, Z Bingöl, C Firtina… - 2020 53rd Annual …, 2020 - ieeexplore.ieee.org
Genome sequence analysis has enabled significant advancements in medical and scientific
areas such as personalized medicine, outbreak tracing, and the understanding of evolution …