Pangenome graphs

JM Eizenga, AM Novak, JA Sibbesen… - Annual review of …, 2020 - annualreviews.org
Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

K Shafin, T Pesout, R Lorig-Roach, M Haukness… - Nature …, 2020 - nature.com
De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

Nematode chromosomes

PM Carlton, RE Davis, S Ahmed - Genetics, 2022 - academic.oup.com
The nematode Caenorhabditis elegans has shed light on many aspects of eukaryotic
biology, including genetics, development, cell biology, and genomics. A major factor in the …

Telomere-to-telomere assemblies of 142 strains characterize the genome structural landscape in Saccharomyces cerevisiae

S O'donnell, JX Yue, OA Saada, N Agier, C Caradec… - Nature Genetics, 2023 - nature.com
Pangenomes provide access to an accurate representation of the genetic diversity of
species, both in terms of sequence polymorphisms and structural variants (SVs). Here we …

Chromosome-scale, haplotype-resolved assembly of human genomes

S Garg, A Fungtammasan, A Carroll, M Chou… - Nature …, 2021 - nature.com
Haplotype-resolved or phased genome assembly provides a complete picture of genomes
and their complex genetic variations. However, current algorithms for phased assembly …

GraphAligner: rapid and versatile sequence-to-graph alignment

M Rautiainen, T Marschall - Genome biology, 2020 - Springer
Genome graphs can represent genetic variation and sequence uncertainty. Aligning
sequences to genome graphs is key to many applications, including error correction …

MBG: Minimizer-based sparse de Bruijn Graph construction

M Rautiainen, T Marschall - Bioinformatics, 2021 - academic.oup.com
Abstract Motivation De Bruijn graphs can be constructed from short reads efficiently and
have been used for many purposes. Traditionally, long-read sequencing technologies have …

Twelve quick steps for genome assembly and annotation in the classroom

H Jung, T Ventura, JS Chung, WJ Kim… - PLoS computational …, 2020 - journals.plos.org
Eukaryotic genome sequencing and de novo assembly, once the exclusive domain of well-
funded international consortia, have become increasingly affordable, thus fitting the budgets …

Tools and strategies for long-read sequencing and de novo assembly of plant genomes

H Jung, C Winefield, A Bombarely, P Prentis… - Trends in plant …, 2019 - cell.com
The commercial release of third-generation sequencing technologies (TGSTs), giving long
and ultra-long sequencing reads, has stimulated the development of new tools for …

HASLR: fast hybrid assembly of long reads

E Haghshenas, H Asghari, J Stoye, C Chauve, F Hach - Iscience, 2020 - cell.com
Third-generation sequencing technologies from companies such as Oxford Nanopore and
Pacific Biosciences have paved the way for building more contiguous and potentially gap …