Results 11 to 20 of about 395,744 (213)

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
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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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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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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
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Genomic Alteration Burden in Advanced Prostate Cancer and Therapeutic Implications

Frontiers in Oncology, 2019
The increasing number of patients with sequenced prostate cancer genomes enables us to study not only individual oncogenic mutations, but also capture the global burden of genomic alterations.
Matthew J. Ryan, Matthew J. Ryan, Matthew J. Ryan, Rohit Bose, Rohit Bose, Rohit Bose, Rohit Bose, Rohit Bose   +7 more
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine, 2021
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to ...
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi   +12 more
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Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy

Molecular Genetics & Genomic Medicine, 2019
Background Autism spectrum disorder is commonly co‐diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD.
Kristy Jay, Amit Mitra, Taylor Harding, David Matthes, Brian Van Ness   +4 more
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Structural Variations in the Genome of Potato Varieties of the Ural Selection

Agronomy, 2021
Potato (Solanum tuberosum L.) is the third most common plant crop in the world. Many studies, such as those using marker-assisted selection (MAS), are devoted to the genomic evaluation of potato.
Georgiy A. Lihodeevskiy, Elena P. Shanina   +1 more
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Investigating the Effect of Imputed Structural Variants from Whole-Genome Sequence on Genome-Wide Association and Genomic Prediction in Dairy Cattle

Animals, 2021
Structural variations (SVs) are large DNA segments of deletions, duplications, copy number variations, inversions and translocations in a re-sequenced genome compared to a reference genome.
Long Chen, Jennie E. Pryce, Ben J. Hayes, Hans D. Daetwyler   +3 more
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Spectrum and Density of Gamma and X-ray Induced Mutations in a Non-Model Rice Cultivar

Plants, 2022
Physical mutagens are a powerful tool used for genetic research and breeding for over eight decades. Yet, when compared to chemical mutagens, data sets on the effect of different mutagens and dosages on the spectrum and density of induced mutations ...
Joanna Jankowicz-Cieslak, Bernhard J. Hofinger, Luka Jarc, Sini Junttila, Bence Galik, Attila Gyenesei, Ivan L. Ingelbrecht, Bradley J. Till   +7 more
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