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 …

[PDF][PDF] Computational pan-genomics: status, promises and challenges

Briefings in bioinformatics, 2018 - academic.oup.com
Many disciplines, from human genetics and oncology to plant breeding, microbiology and
virology, commonly face the challenge of analyzing rapidly increasing numbers of genomes …

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

D Kim, JM Paggi, C Park, C Bennett… - Nature biotechnology, 2019 - nature.com
The human reference genome represents only a small number of individuals, which limits its
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …

Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes

H Heaton, AM Talman, A Knights, M Imaz, DJ Gaffney… - Nature …, 2020 - nature.com
Methods to deconvolve single-cell RNA-sequencing (scRNA-seq) data are necessary for
samples containing a mixture of genotypes, whether they are natural or experimentally …

H3K18 lactylation marks tissue-specific active enhancers

E Galle, CW Wong, A Ghosh, T Desgeorges, K Melrose… - Genome biology, 2022 - Springer
Background Histone lactylation has been recently described as a novel histone post-
translational modification linking cellular metabolism to epigenetic regulation. Results Given …

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 …

Graphtyper enables population-scale genotyping using pangenome graphs

HP Eggertsson, H Jonsson, S Kristmundsdottir… - Nature …, 2017 - nature.com
A fundamental requirement for genetic studies is an accurate determination of sequence
variation. While human genome sequence diversity is increasingly well characterized, there …

Evolutionary origin of genomic structural variations in domestic yaks

X Liu, W Liu, JA Lenstra, Z Zheng, X Wu, J Yang… - Nature …, 2023 - nature.com
Yak has been subject to natural selection, human domestication and interspecific
introgression during its evolution. However, genetic variants favored by each of these …

Technology dictates algorithms: recent developments in read alignment

M Alser, J Rotman, D Deshpande, K Taraszka, H Shi… - Genome biology, 2021 - Springer
Aligning sequencing reads onto a reference is an essential step of the majority of genomic
analysis pipelines. Computational algorithms for read alignment have evolved in …

Blocking Dectin-1 prevents colorectal tumorigenesis by suppressing prostaglandin E2 production in myeloid-derived suppressor cells and enhancing IL-22 binding …

C Tang, H Sun, M Kadoki, W Han, X Ye… - Nature …, 2023 - nature.com
Abstract Dectin-1 (gene Clec7a), a receptor for β-glucans, plays important roles in the host
defense against fungi and immune homeostasis of the intestine. Although this molecule is …