A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
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 …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Opportunities and challenges in long-read sequencing data analysis
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …
broadening their application domains in genomics. Dedicated analysis tools that take into …
YaHS: yet another Hi-C scaffolding tool
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 …
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
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 …
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
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 …
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 …
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
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 …
Origin and evolution of the octoploid strawberry genome
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 …
descendants from the merger of four diploid progenitor species into a single nucleus more …
Versatile genome assembly evaluation with QUAST-LG
Motivation The emergence of high-throughput sequencing technologies revolutionized
genomics in early 2000s. The next revolution came with the era of long-read sequencing …
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
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 …
'Platinum'genome, but it remains a major challenge to assemble and anchor sequences to …