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 …
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 …
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 …
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
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 …
species, both in terms of sequence polymorphisms and structural variants (SVs). Here we …
Chromosome-scale, haplotype-resolved assembly of human genomes
Haplotype-resolved or phased genome assembly provides a complete picture of genomes
and their complex genetic variations. However, current algorithms for phased assembly …
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 …
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 …
have been used for many purposes. Traditionally, long-read sequencing technologies have …
Twelve quick steps for genome assembly and annotation in the classroom
Eukaryotic genome sequencing and de novo assembly, once the exclusive domain of well-
funded international consortia, have become increasingly affordable, thus fitting the budgets …
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
The commercial release of third-generation sequencing technologies (TGSTs), giving long
and ultra-long sequencing reads, has stimulated the development of new tools for …
and ultra-long sequencing reads, has stimulated the development of new tools for …
HASLR: fast hybrid assembly of long reads
Third-generation sequencing technologies from companies such as Oxford Nanopore and
Pacific Biosciences have paved the way for building more contiguous and potentially gap …
Pacific Biosciences have paved the way for building more contiguous and potentially gap …