A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

YaHS: yet another Hi-C scaffolding tool

C Zhou, SA McCarthy, R Durbin - Bioinformatics, 2023 - academic.oup.com
We present YaHS, a user-friendly command-line tool for the construction of chromosome-
scale scaffolds from Hi-C data. It can be run with a single-line command, requires minimal …

Ancient gene linkages support ctenophores as sister to other animals

DT Schultz, SHD Haddock, JV Bredeson, RE Green… - Nature, 2023 - nature.com
A central question in evolutionary biology is whether sponges or ctenophores (comb jellies)
are the sister group to all other animals. These alternative phylogenetic hypotheses imply …

De novo assembly of the cattle reference genome with single-molecule sequencing

BD Rosen, DM Bickhart, RD Schnabel, S Koren… - …, 2020 - academic.oup.com
Background Major advances in selection progress for cattle have been made following the
introduction of genomic tools over the past 10–12 years. These tools depend upon the Bos …

A comparative genomics multitool for scientific discovery and conservation

Nature, 2020 - nature.com
Abstract The Zoonomia Project is investigating the genomics of shared and specialized traits
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …

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 …

Origin and evolution of the octoploid strawberry genome

PP Edger, TJ Poorten, R VanBuren, MA Hardigan… - Nature …, 2019 - nature.com
Cultivated strawberry emerged from the hybridization of two wild octoploid species, both
descendants from the merger of four diploid progenitor species into a single nucleus more …

Versatile genome assembly evaluation with QUAST-LG

A Mikheenko, A Prjibelski, V Saveliev, D Antipov… - …, 2018 - academic.oup.com
Motivation The emergence of high-throughput sequencing technologies revolutionized
genomics in early 2000s. The next revolution came with the era of long-read sequencing …

Assembly of allele-aware, chromosomal-scale autopolyploid genomes based on Hi-C data

X Zhang, S Zhang, Q Zhao, R Ming, H Tang - Nature plants, 2019 - nature.com
Construction of chromosome-level assembly is a vital step in achieving the goal of a
'Platinum'genome, but it remains a major challenge to assemble and anchor sequences to …