Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0397-6
Abstract: PurposeStructural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols… read more here.
Keywords: detection; variation; next generation; detection structural ... See more keywords
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Sign Up to like & getrecommendations! Published in 2017 at "Genome research"
DOI: 10.1101/gr.212373.116
Abstract: Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells and have been implicated in developmental disorders and cancer. Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray… read more here.
Keywords: detection; sequencing data; whole genome; detection structural ... See more keywords
Detection of structural bolt detorquing using direct acoustic measurement
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Acoustical Society of America"
DOI: 10.1121/1.4988527
Abstract: A method for detecting loosened bolts in a structural joint based upon open-loop acoustic measurement is presented. The acoustic measurement is taken direclty on the bolt head. The response of the bolt to a proximal… read more here.
Keywords: acoustic measurement; structural bolt; bolt detorquing; measurement ... See more keywords
Highly performing automatic detection of structural chromosomal abnormalities using Siamese architecture.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of molecular biology"
DOI: 10.2139/ssrn.4246604
Abstract: The detection of structural chromosomal abnormalities (SCA) is crucial for diagnosis, prognosis and management of many genetic diseases and cancers. This detection, done by highly qualified medical experts, is tedious and time-consuming. We propose a… read more here.
Keywords: highly performing; siamese architecture; structural chromosomal; detection structural ... See more keywords
NMR Detection and Structural Modeling of the Ethylene Receptor LeETR2 from Tomato
Sign Up to like & getrecommendations! Published in 2022 at "Membranes"
DOI: 10.3390/membranes12020107
Abstract: The gaseous plant hormone ethylene influences many physiological processes in plant growth and development. Plant ethylene responses are mediated by a family of ethylene receptors, in which the N-terminal transmembrane domains are responsible for ethylene… read more here.
Keywords: detection structural; ethylene receptors; nmr detection; ethylene ... See more keywords