[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 …
[HTML][HTML] 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 …
Next-generation sequencing technologies: An overview
T Hu, N Chitnis, D Monos, A Dinh - Human Immunology, 2021 - Elsevier
Since the days of Sanger sequencing, next-generation sequencing technologies have
significantly evolved to provide increased data output, efficiencies, and applications. These …
significantly evolved to provide increased data output, efficiencies, and applications. These …
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 …
[HTML][HTML] 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 …
RNA sequencing: the teenage years
Over the past decade, RNA sequencing (RNA-seq) has become an indispensable tool for
transcriptome-wide analysis of differential gene expression and differential splicing of …
transcriptome-wide analysis of differential gene expression and differential splicing of …
Single-cell RNA counting at allele and isoform resolution using Smart-seq3
Large-scale sequencing of RNA from individual cells can reveal patterns of gene, isoform
and allelic expression across cell types and states. However, current short-read single-cell …
and allelic expression across cell types and states. However, current short-read single-cell …
[HTML][HTML] Accurate isoform discovery with IsoQuant using long reads
Annotating newly sequenced genomes and determining alternative isoforms from long-read
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …
Minimap2: pairwise alignment for nucleotide sequences
H Li - Bioinformatics, 2018 - academic.oup.com
Motivation Recent advances in sequencing technologies promise ultra-long reads of∼ 100
kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs …
kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs …
rnaSPAdes: a de novo transcriptome assembler and its application to RNA-Seq data
E Bushmanova, D Antipov, A Lapidus… - GigaScience, 2019 - academic.oup.com
Background The possibility of generating large RNA-sequencing datasets has led to
development of various reference-based and de novo transcriptome assemblers with their …
development of various reference-based and de novo transcriptome assemblers with their …