[HTML][HTML] Long walk to genomics: History and current approaches to genome sequencing and assembly

AM Giani, GR Gallo, L Gianfranceschi… - Computational and …, 2020 - Elsevier
Genomes represent the starting point of genetic studies. Since the discovery of DNA
structure, scientists have devoted great efforts to determine their sequence in an exact way …

Advances and opportunities in malaria population genomics

DE Neafsey, AR Taylor, BL MacInnis - Nature Reviews Genetics, 2021 - nature.com
Almost 20 years have passed since the first reference genome assemblies were published
for Plasmodium falciparum, the deadliest malaria parasite, and Anopheles gambiae, the …

Towards complete and error-free genome assemblies of all vertebrate species

A Rhie, SA McCarthy, O Fedrigo, J Damas, G Formenti… - Nature, 2021 - nature.com
High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …

Identifying and removing haplotypic duplication in primary genome assemblies

D Guan, SA McCarthy, J Wood, K Howe, Y Wang… - …, 2020 - academic.oup.com
Motivation Rapid development in long-read sequencing and scaffolding technologies is
accelerating the production of reference-quality assemblies for large eukaryotic genomes …

Purge Haplotigs: allelic contig reassignment for third-gen diploid genome assemblies

MJ Roach, SA Schmidt, AR Borneman - BMC bioinformatics, 2018 - Springer
Background Recent developments in third-gen long read sequencing and diploid-aware
assemblers have resulted in the rapid release of numerous reference-quality assemblies for …

Progressive Cactus is a multiple-genome aligner for the thousand-genome era

J Armstrong, G Hickey, M Diekhans, IT Fiddes… - Nature, 2020 - nature.com
New genome assemblies have been arriving at a rapidly increasing pace, thanks to
decreases in sequencing costs and improvements in third-generation sequencing …

De novo assembly of haplotype-resolved genomes with trio binning

S Koren, A Rhie, BP Walenz, AT Dilthey… - Nature …, 2018 - nature.com
Complex allelic variation hampers the assembly of haplotype-resolved sequences from
diploid genomes. We developed trio binning, an approach that simplifies haplotype …

High-resolution comparative analysis of great ape genomes

ZN Kronenberg, IT Fiddes, D Gordon, S Murali… - Science, 2018 - science.org
INTRODUCTION Understanding the genetic differences that make us human is a long-
standing endeavor that requires the comprehensive discovery and comparison of all forms …

A chromosome-level Camptotheca acuminata genome assembly provides insights into the evolutionary origin of camptothecin biosynthesis

M Kang, R Fu, P Zhang, S Lou, X Yang, Y Chen… - Nature …, 2021 - nature.com
Camptothecin and its derivatives are widely used for treating malignant tumors. Previous
studies revealed only a limited number of candidate genes for camptothecin biosynthesis in …

The Juicebox Assembly Tools module facilitates de novo assembly of mammalian genomes with chromosome-length scaffolds for under $1000

O Dudchenko, MS Shamim, SS Batra, NC Durand… - BioRxiv, 2018 - biorxiv.org
Hi-C contact maps are valuable for genome assembly (;;). Recently, we developed Juicebox,
a system for the visual exploration of Hi-C data, and 3D-DNA, an automated pipeline for …