MIDN locus structural variants and Parkinson's Disease risk
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51012
Abstract: Funding Information This work was supported in part by the Intramural Research Programs of the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute on Aging (NIA), and the National Institute of Environmental… read more here.
Keywords: national institute; midn locus; locus structural; variants parkinson ... See more keywords
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.12.007
Abstract: Summary Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base pairs)… read more here.
Keywords: structural variants; svs; clinicians researchers; predict pathogenicity ... See more keywords
A mutation can hide another one: Think Structural Variants!
Sign Up to like & getrecommendations! Published in 2020 at "Computational and Structural Biotechnology Journal"
DOI: 10.1016/j.csbj.2020.07.021
Abstract: Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single… read more here.
Keywords: mutation hide; hide another; structural variants; another one ... See more keywords
Toolkit for automated and rapid discovery of structural variants.
Sign Up to like & getrecommendations! Published in 2017 at "Methods"
DOI: 10.1016/j.ymeth.2017.05.030
Abstract: Structural variations (SV) are broadly defined as genomic alterations that affect >50bp of DNA, which are shown to have significant effect on evolution and disease. The advent of high throughput sequencing (HTS) technologies and the… read more here.
Keywords: discovery structural; automated rapid; structural variants; toolkit automated ... See more keywords
Detecting Inherited and Novel Structural Variants in Low-Coverage Parent-Child Sequencing Data.
Sign Up to like & getrecommendations! Published in 2019 at "Methods"
DOI: 10.1016/j.ymeth.2019.06.025
Abstract: Structural variants (SVs) are a class of genomic variation shared by members of the same species. Though relatively rare, they represent an increasingly important class of variation, as SVs have been associated with diseases and… read more here.
Keywords: child; structural variants; coverage; parent ... See more keywords
Structural Variants of a Liver Fluke Derived Granulin Peptide Potently Stimulate Wound Healing.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of medicinal chemistry"
DOI: 10.1021/acs.jmedchem.8b00898
Abstract: Granulins are a family of growth factors involved in cell proliferation. The liver-fluke granulin, Ov-GRN-1, isolated from a carcinogenic liver fluke Opisthorchis viverrini, can significantly accelerate wound repair in vivo and in vitro. However, it… read more here.
Keywords: variants liver; wound healing; liver fluke; fluke derived ... See more keywords
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01343-4
Abstract: Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse the genomes of two patients with congenital abnormalities using the MinION… read more here.
Keywords: short read; variation; patient genomes; structural variants ... See more keywords
Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-12174-w
Abstract: We present a high-quality de novo genome assembly (rheMacS) of the Chinese rhesus macaque (Macaca mulatta) using long-read sequencing and multiplatform scaffolding approaches. Compared to the current Indian rhesus macaque reference genome (rheMac8), rheMacS increases… read more here.
Keywords: rhesus macaque; ape specific; long read; structural variants ... See more keywords
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1038/s41467-022-28244-5
Abstract: CRISPR-Cas9 genome editing has potential to cure diseases without current treatments, but therapies must be safe. Here we show that CRISPR-Cas9 editing can introduce unintended mutations in vivo, which are passed on to the next… read more here.
Keywords: structural variants; target target; crispr cas9; target ... See more keywords
The population genetics of structural variants in grapevine domestication
Sign Up to like & getrecommendations! Published in 2019 at "Nature Plants"
DOI: 10.1038/s41477-019-0507-8
Abstract: Structural variants (SVs) are a largely unexplored feature of plant genomes. Little is known about the type and size of SVs, their distribution among individuals and, especially, their population dynamics. Understanding these dynamics is critical… read more here.
Keywords: genetics; domestication; structural variants; variants grapevine ... See more keywords
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-1965-x
Abstract: The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes… read more here.
Keywords: analyses non; structural variants; cancer; whole genomes ... See more keywords