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 …
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 …
Super-pangenome analyses highlight genomic diversity and structural variation across wild and cultivated tomato species
Effective utilization of wild relatives is key to overcoming challenges in genetic improvement
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm
Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence
variations in a genome. However, existing algorithms either collapse heterozygous alleles …
variations in a genome. However, existing algorithms either collapse heterozygous alleles …
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 …
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 …
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 …
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …
Fast and accurate long-read assembly with wtdbg2
Existing long-read assemblers require thousands of central processing unit hours to
assemble a human genome and are being outpaced by sequencing technologies in terms of …
assemble a human genome and are being outpaced by sequencing technologies in terms of …
Assembly of long, error-prone reads using repeat graphs
Accurate genome assembly is hampered by repetitive regions. Although long single
molecule sequencing reads are better able to resolve genomic repeats than short-read data …
molecule sequencing reads are better able to resolve genomic repeats than short-read data …