Alignment-free sequence comparison: benefits, applications, and tools

A Zielezinski, S Vinga, J Almeida, WM Karlowski - Genome biology, 2017 - Springer
Alignment-free sequence analyses have been applied to problems ranging from whole-
genome phylogeny to the classification of protein families, identification of horizontally …

The Genome 10K Project: a way forward

KP Koepfli, B Paten… - Annu. Rev. Anim …, 2015 - annualreviews.org
The Genome 10K Project was established in 2009 by a consortium of biologists and
genome scientists determined to facilitate the sequencing and analysis of the complete …

Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Pangenome graph construction from genome alignments with Minigraph-Cactus

G Hickey, J Monlong, J Ebler, AM Novak… - Nature …, 2024 - nature.com
Pangenome references address biases of reference genomes by storing a representative
set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

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 …

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

H Jónsson, P Sulem, B Kehr, S Kristmundsdottir, F Zink… - Nature, 2017 - nature.com
The characterization of mutational processes that generate sequence diversity in the human
genome is of paramount importance both to medical genetics, and to evolutionary studies …

New whole-genome alignment tools are needed for tap** into plant diversity

B Song, ES Buckler, MC Stitzer - Trends in Plant Science, 2024 - cell.com
Genome alignment is one of the most foundational methods for genome sequence studies.
With rapid advances in sequencing and assembly technologies, these newly assembled …

Multiple sequence alignment modeling: methods and applications

M Chatzou, C Magis, JM Chang… - Briefings in …, 2016 - academic.oup.com
This review provides an overview on the development of Multiple sequence alignment
(MSA) methods and their main applications. It is focused on progress made over the past …

Benchmarking of alignment-free sequence comparison methods

A Zielezinski, HZ Girgis, G Bernard, CA Leimeister… - Genome biology, 2019 - Springer
Background Alignment-free (AF) sequence comparison is attracting persistent interest driven
by data-intensive applications. Hence, many AF procedures have been proposed in recent …