Results 11 to 20 of about 864,768 (299)

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
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Resolving the roles of structural variants [PDF]

Nature Reviews Genetics, 2020
Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.
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Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Lynch syndrome is one of the most common cancer predisposition syndromes. It is caused by inherited changes in the mismatch repair pathway. With current diagnostic approaches, a causative genetic variant can be found in less than 50% of cases.
Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder   +11 more
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Structural Variants May Be a Source of Missing Heritability in sALS

Frontiers in Neuroscience, 2020
The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in ...
Frances Theunissen, Frances Theunissen, Loren L. Flynn, Loren L. Flynn, Loren L. Flynn, Ryan S. Anderton, Ryan S. Anderton, Ryan S. Anderton, Frank Mastaglia, Frank Mastaglia, Julia Pytte, Julia Pytte, Leanne Jiang, Leanne Jiang, Stuart Hodgetts, Stuart Hodgetts, Daniel K. Burns, Ann Saunders, Sue Fletcher, Sue Fletcher, Steve D. Wilton, Steve D. Wilton, Steve D. Wilton, Patrick Anthony Akkari, Patrick Anthony Akkari, Patrick Anthony Akkari   +25 more
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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
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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
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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]

, 2016
Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika, Barrett, J. Carl, Chapman, Brad, Dougherty, Brian, Dry, Jonathan R., Hofmann, Oliver, Johnson, Justin, Lai, Zhongwu, Markovets, Aleksandra, McEwen, Robert   +9 more
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Genetic Control of Rod Bipolar Cell Number in the Mouse Retina

Frontiers in Neuroscience, 2018
Genetic variants modulate the numbers of various retinal cell types in mice. For instance, there is minimal variation in the number of rod bipolar cells (RBCs) in two inbred strains of mice (A/J and C57BL/6J), yet their F1 offspring contain significantly
Amanda G. Kautzman, Amanda G. Kautzman, Patrick W. Keeley, Patrick W. Keeley, Sarra Borhanian, Sarra Borhanian, Caroline R. Ackley, Caroline R. Ackley, Benjamin E. Reese, Benjamin E. Reese   +9 more
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Structure and stability of the P93G variant of ribonuclease A [PDF]

Protein Science, 1998
AbstractThe peptide bonds preceding Pro 93 and Pro 114 of bovine pancreatic ribonuclease A (RNase A) are in the cis conformation. The trans‐to‐cis isomerization of these bonds had been indicted as the slow step during protein folding. Here, site‐directed mutagenesis was used to replace Pro 93 or Pro 114 with a glycine residue, and the crystalline ...
L W, Schultz, S R, Hargraves, T A, Klink, R T, Raines   +3 more
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