[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …
molecules have led to substantial improvements in accuracy, read length and throughput …
Applications of long-read sequencing to Mendelian genetics
Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …
Robust taxonomic classification of uncharted microbial sequences and bins with CAT and BAT
FAB Von Meijenfeldt, K Arkhipova, DD Cambuy… - Genome biology, 2019 - Springer
Current-day metagenomics analyses increasingly involve de novo taxonomic classification
of long DNA sequences and metagenome-assembled genomes. Here, we show that the …
of long DNA sequences and metagenome-assembled genomes. Here, we show that the …
Detection of long repeat expansions from PCR-free whole-genome sequence data
E Dolzhenko, JJ Van Vugt, RJ Shaw… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …
A comprehensive evaluation of long read error correction methods
Background Third-generation single molecule sequencing technologies can sequence long
reads, which is advancing the frontiers of genomics research. However, their high error rates …
reads, which is advancing the frontiers of genomics research. However, their high error rates …
A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell lines
The human genome contains more than 200,000 gene isoforms. However, different isoforms
can be highly similar, and with an average length of 1.5 kb remain difficult to study with short …
can be highly similar, and with an average length of 1.5 kb remain difficult to study with short …
A comparative evaluation of hybrid error correction methods for error-prone long reads
S Fu, A Wang, KF Au - Genome biology, 2019 - Springer
Background Third-generation sequencing technologies have advanced the progress of the
biological research by generating reads that are substantially longer than second …
biological research by generating reads that are substantially longer than second …
Evaluating Illumina-, Nanopore-, and PacBio-based genome assembly strategies with the bald notothen, Trematomus borchgrevinki
For any genome-based research, a robust genome assembly is required. De novo assembly
strategies have evolved with changes in DNA sequencing technologies and have been …
strategies have evolved with changes in DNA sequencing technologies and have been …
Computational aspects underlying genome to phenome analysis in plants
Recent advances in genomics technologies have greatly accelerated the progress in both
fundamental plant science and applied breeding research. Concurrently, high‐throughput …
fundamental plant science and applied breeding research. Concurrently, high‐throughput …
Intra-species differences in population size shape life history and genome evolution
The evolutionary forces shaping life history divergence within species are largely unknown.
Turquoise killifish display differences in lifespan among wild populations, representing an …
Turquoise killifish display differences in lifespan among wild populations, representing an …