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Cataloging Plant Genome Structural Variations [PDF]

Current Issues in Molecular Biology, 2017
Structural variation (SV) is a type of genetic variation identified through the comparison of genome structures which often have direct and significant associations with phenotypic variations. Building on the next generation sequencing (NGS) technologies, research on plant structural variations are gaining momentum and have revolutionized our view on ...
Zhang, Xingtan, Chen, Xuequn, Liang, Pingping, Tang, Haibao   +3 more
openaire   +3 more sources

Extensive Copy Number Variation in Fermentation-Related Genes Among Saccharomyces cerevisiae Wine Strains

G3: Genes, Genomes, Genetics, 2017
Due to the importance of Saccharomyces cerevisiae in wine-making, the genomic variation of wine yeast strains has been extensively studied. One of the major insights stemming from these studies is that wine yeast strains harbor low levels of genetic ...
Jacob Steenwyk, Antonis Rokas
doaj   +1 more source

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +1 more source

Optical Genome Mapping Reveals the Landscape of Structural Variations and Their Clinical Significance in HBOC-Related Breast Cancer

Frontiers in Bioscience-Landmark
Background: Structural variations (SVs) are common genetic alterations in the human genome. However, the profile and clinical relevance of SVs in patients with hereditary breast and ovarian cancer (HBOC) syndrome (germline BRCA1/2 mutations) remains to ...
Yanan Cheng, Li Dong, Dechao Bu, Lei Han, Yi Zhao, Juntian Liu, Xiaojing Guo, Hanli Xu, Jinpu Yu   +8 more
doaj   +1 more source

Prediction of structural variation

Current Opinion in Structural Biology
Proteins are dynamic molecules that transition between conformational states to perform their functions, and characterizing the protein ensemble is important for understanding biology and therapeutic applications. While recent breakthroughs in machine learning have enabled the prediction of high-quality static models of individual proteins, generating ...
Yogesh Kalakoti, Airy Sanjeev, Björn Wallner   +2 more
openaire   +3 more sources

Modulational Instability and Variational Structure [PDF]

Studies in Applied Mathematics, 2014
We study the modulational instability of periodic traveling waves for a class of Hamiltonian systems in one spatial dimension. We examine how the Jordan block structure of the associated linearized operator bifurcates for small values of the Floquet exponent to derive a criterion governing instability to long wavelengths perturbations in terms of the ...
Bronski, J. C., Hur, V. M.
openaire   +2 more sources

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Structural and transduction patterns of human-specific polymorphic SVA insertions

Mobile DNA
Background SINE variable number tandem repeat Alu elements (SVAs) are a unique group of hominid-specific composite retrotransposons with highly variable internal structure.
Ashley E. Kirby, Mark Loftus, Emily C. Golba, Human Genome Structural Variation Consortium, Miriam K. Konkel   +4 more
doaj   +1 more source

Insights into the Stearoyl-Acyl Carrier Protein Desaturase (SAD) Family in Tigernut (Cyperus esculentus L.), an Oil-Bearing Tuber Plant

Plants
Plant oils rich in oleic acid (OA) are attracting considerable attention for their high nutritional value and significant industrial potential. Stearoyl-acyl carrier protein desaturases (SADs) are a class of soluble desaturases that play a key role in OA
Zhi Zou, Xiaowen Fu, Chunqiang Li, Xiaoping Yi, Jiaquan Huang, Yongguo Zhao   +5 more
doaj   +1 more source

Structural variations in plant genomes [PDF]

Briefings in Functional Genomics, 2014
Differences between plant genomes range from single nucleotide polymorphisms to large-scale duplications, deletions and rearrangements. The large polymorphisms are termed structural variants (SVs). SVs have received significant attention in human genetics and were found to be responsible for various chronic diseases.
Saxena, Rachit K., Edwards, David, Varshney, Rajeev K.   +2 more
openaire   +3 more sources