Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23150
Abstract: The FMR1 gene contains an unstable CGG repeat in its 5′ untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X‐associated tremor/ataxia syndrome or fragile X‐associated… read more here.
Keywords: premutation; molecule sequencing; single molecule; agg interruptions ... See more keywords
Current and Future Methods for mRNA Analysis: A Drive Toward Single Molecule Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7834-2_11
Abstract: The transcriptome encompasses a range of species including messenger RNA, and other noncoding RNA such as rRNA, tRNA, and short and long noncoding RNAs. Due to the huge role played by mRNA in development and… read more here.
Keywords: molecule sequencing; single molecule; rna; transcriptome ... See more keywords
Single-Molecule Sequencing: Towards Clinical Applications.
Sign Up to like & getrecommendations! Published in 2019 at "Trends in biotechnology"
DOI: 10.1016/j.tibtech.2018.07.013
Abstract: In the past several years, single-molecule sequencing platforms, such as those by Pacific Biosciences and Oxford Nanopore Technologies, have become available to researchers and are currently being tested for clinical applications. They offer exceptionally long… read more here.
Keywords: sequencing towards; molecule sequencing; single molecule; clinical applications ... See more keywords
A multi-task convolutional deep neural network for variant calling in single molecule sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-09025-z
Abstract: The accurate identification of DNA sequence variants is an important, but challenging task in genomics. It is particularly difficult for single molecule sequencing, which has a per-nucleotide error rate of ~5–15%. Meeting this demand, we… read more here.
Keywords: multi task; neural network; molecule sequencing; single molecule ... See more keywords
A pipeline for local assembly of minisatellite alleles from single-molecule sequencing data
Sign Up to like & getrecommendations! Published in 2017 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btw687
Abstract: Motivation: The advent of Next Generation Sequencing (NGS) has led to the generation of enormous volumes of short read sequence data, cheaply and in reasonable time scales. Nevertheless, the quality of genome assemblies generated using… read more here.
Keywords: molecule; molecule sequencing; single molecule; pipeline ... See more keywords