Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …
or less-accurate long reads. We report the optimization of circular consensus sequencing …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Ultrarapid nanopore genome sequencing in a critical care setting
Genetic Diagnoses in Critical Care Because a genetic diagnosis can guide clinical
management and improve prognosis in critically ill patients, much effort has gone into …
management and improve prognosis in critically ill patients, much effort has gone into …
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …
difficult-to-map regions and routinely linking together adjacent variations to enable read …
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
[PDF][PDF] PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
ND Olson, J Wagner, J McDaniel, SH Stephens… - Cell genomics, 2022 - cell.com
Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the
time required for sequencing and analysis has been a barrier to its use in acutely ill patients …
time required for sequencing and analysis has been a barrier to its use in acutely ill patients …
Gaps and complex structurally variant loci in phased genome assemblies
D Porubsky, MR Vollger, WT Harvey… - Genome …, 2023 - genome.cshlp.org
There has been tremendous progress in phased genome assembly production by
combining long-read data with parental information or linked-read data. Nevertheless, a …
combining long-read data with parental information or linked-read data. Nevertheless, a …
A population-specific reference panel for improved genotype imputation in African Americans
There is currently a dearth of accessible whole genome sequencing (WGS) data for
individuals residing in the Americas with Sub-Saharan African ancestry. We generated …
individuals residing in the Americas with Sub-Saharan African ancestry. We generated …
Haplotype-aware variant calling enables high accuracy in nanopore long-reads using deep neural networks
Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …
difficult-to-map regions and routinely linking together adjacent variations to enable read …