Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …
emerged as powerful players in genomics. With the ability to generate reads tens to …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …
variants. Generating such alignments introduces reference biases and comes with …
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool …
reference genomes, making validation challenging. Here we present Merqury, a novel tool …
The structure, function and evolution of a complete human chromosome 8
The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …
biology and evolution,. Here we use complementary long-read sequencing technologies to …
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …
analyses and are of critical importance. Recent genome assembly projects have relied on a …
Highly accurate long-read HiFi sequencing data for five complex genomes
T Hon, K Mars, G Young, YC Tsai, JW Karalius… - Scientific data, 2020 - nature.com
Abstract The PacBio® HiFi sequencing method yields highly accurate long-read sequencing
datasets with read lengths averaging 10–25 kb and accuracies greater than 99.5%. These …
datasets with read lengths averaging 10–25 kb and accuracies greater than 99.5%. These …
[HTML][HTML] Benchmarking challenging small variants with linked and long reads
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing
pipelines and develop variant calling and sequencing methods. Here we use accurate …
pipelines and develop variant calling and sequencing methods. Here we use accurate …
Chromosome-scale, haplotype-resolved assembly of human genomes
Haplotype-resolved or phased genome assembly provides a complete picture of genomes
and their complex genetic variations. However, current algorithms for phased assembly …
and their complex genetic variations. However, current algorithms for phased assembly …
A high-quality bonobo genome refines the analysis of hominid evolution
Y Mao, CR Catacchio, LDW Hillier, D Porubsky, R Li… - Nature, 2021 - nature.com
The divergence of chimpanzee and bonobo provides one of the few examples of recent
hominid speciation,. Here we describe a fully annotated, high-quality bonobo genome …
hominid speciation,. Here we describe a fully annotated, high-quality bonobo genome …