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 …
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
Towards complete and error-free genome assemblies of all vertebrate species
High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …
application of genomics to biology, disease, and biodiversity conservation. However, such …
Semi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …
generate a high-quality assembly, which has benefitted society,. However, it still has many …
A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …
methods have been developed for the discovery and analysis of structural variants (SVs) …
[HTML][HTML] A review of computational tools for generating metagenome-assembled genomes from metagenomic sequencing data
Metagenomic sequencing provides a culture-independent avenue to investigate the
complex microbial communities by constructing metagenome-assembled genomes (MAGs) …
complex microbial communities by constructing metagenome-assembled genomes (MAGs) …
Structural variations in cancer and the 3D genome
F Dubois, N Sidiropoulos, J Weischenfeldt… - Nature Reviews …, 2022 - nature.com
Structural variations (SVs) affect more of the cancer genome than any other type of somatic
genetic alteration but difficulties in detecting and interpreting them have limited our …
genetic alteration but difficulties in detecting and interpreting them have limited our …
Genomic variant benchmark: if you cannot measure it, you cannot improve it
Genomic benchmark datasets are essential to driving the field of genomics and
bioinformatics. They provide a snapshot of the performances of sequencing technologies …
bioinformatics. They provide a snapshot of the performances of sequencing technologies …
Seagrass genomes reveal ancient polyploidy and adaptations to the marine environment
We present chromosome-level genome assemblies from representative species of three
independently evolved seagrass lineages: Posidonia oceanica, Cymodocea nodosa …
independently evolved seagrass lineages: Posidonia oceanica, Cymodocea nodosa …
Candida albicans selection for human commensalism results in substantial within-host diversity without decreasing fitness for invasive disease
FM Anderson, ND Visser, KR Amses… - Plos …, 2023 - journals.plos.org
Candida albicans is a frequent colonizer of human mucosal surfaces as well as an
opportunistic pathogen. C. albicans is remarkably versatile in its ability to colonize diverse …
opportunistic pathogen. C. albicans is remarkably versatile in its ability to colonize diverse …