Results 11 to 20 of about 908,392 (296)

A Map of 3′ DNA Transduction Variants Mediated by Non-LTR Retroelements on 3202 Human Genomes

Biology, 2022
As one of the major structural constituents, mobile elements comprise more than half of the human genome, among which Alu, L1, and SVA elements are still active and continue to generate new offspring.
Reza Halabian, Wojciech Makałowski
doaj   +1 more source

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

Frontiers in Molecular Biosciences, 2023
Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss ...
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Aleksander Jamsheer, Aleksander Jamsheer   +6 more
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A Worldwide Map of Human Structural Variants [PDF]

Trends in Genetics, 2020
Genomic variation extends from single nucleotide variants to large chromosomal rearrangements, but the extent of structural variation in Homo sapiens is still unclear. Almarri et al. provide a worldwide catalogue of structural variants present in human populations.
Montinaro, F, Capelli, C
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Structural variant identification and characterization

Chromosome Research, 2020
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. De-regulation of accurate DNA repair and genomic surveillance mechanisms results in a large number of SVs in cancer. Analysis of the DNA sequences at SV breakpoints can help identify pathways of mutagenesis and regions ...
Parithi Balachandran, Christine R. Beck
openaire   +4 more sources

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

Molecular Genetics & Genomic Medicine, 2021
Background Targeted sequencing approaches such as gene panel or exome sequencing have become standard of care for the diagnosis of rare and common genetic disease.
German Demidov, Joohyun Park, Sorin Armeanu‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski   +9 more
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Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
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Unraveling Gene Fusions for Drug Repositioning in High-Risk Neuroblastoma

Frontiers in Pharmacology, 2021
High-risk neuroblastoma (NB) remains a significant therapeutic challenge facing current pediatric oncology patients. Structural variants such as gene fusions have shown an initial promise in enhancing mechanistic understanding of NB and improving ...
Zhichao Liu, Xi Chen, Ruth Roberts, Ruth Roberts, Ruili Huang, Mike Mikailov, Weida Tong   +6 more
doaj   +1 more source

Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. [PDF]

, 2020
Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits.
Andrés, Aida M, Dennis, Megan Y, Kaya, Gulhan, Mastoras, Mira, Sahasrabudhe, Ruta, Schmidt, Joshua M, Shew, Colin, Soto, Daniela C   +7 more
core   +3 more sources

VarSite: Disease variants and protein structure [PDF]

Protein Science, 2019
AbstractVarSite is a web server mapping known disease‐associated variants from UniProt and ClinVar, together with natural variants from gnomAD, onto protein 3D structures in the Protein Data Bank. The analyses are primarily image‐based and provide both an overview for each human protein, as well as a report for any specific variant of interest.
Roman A. Laskowski, James D. Stephenson, Ian Sillitoe, Christine A. Orengo, Janet M. Thornton   +4 more
openaire   +3 more sources

Structure-Based Understanding of ABCA3 Variants [PDF]

International Journal of Molecular Sciences, 2021
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care.
Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix   +3 more
openaire   +2 more sources