Results 11 to 20 of about 358,877 (267)
Structural variations in papaya genomes [PDF]
BMC Genomics, 2021 Abstract Background Structural variations (SVs) are a type of mutations that have not been widely detected in plant genomes and studies in animals have shown their role in the process of domestication. An in-depth study of SVs will help us to further understand the impact of SVs on the phenotype and environmental ...
Zhenyang Liao +5 more
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Online resources for genomic structural variation. [PDF]
Methods Mol Biol, 2012 Genomic structural variation (SV) can be thought of on a continuum from a single base pair insertion/deletion (INDEL) to large megabase-scale rearrangements involving insertions, deletions, duplications, inversions, or translocations of whole chromosomes or chromosome arms.
Sneddon TP, Church DM.
europepmc +4 more sources
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 +3 more
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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. +2 more
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A pan-genomic approach to genome databases using maize as a model system
BMC Plant Biology, 2021 Research in the past decade has demonstrated that a single reference genome is not representative of a species’ diversity. MaizeGDB introduces a pan-genomic approach to hosting genomic data, leveraging the large number of diverse maize genomes and their ...
Margaret R. Woodhouse +6 more
doaj +1 more source
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
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Genome Biology, 2023 Genomic abnormalities are strongly associated with cancer and infertility. In this study, we develop a simple and efficient method — multiple genetic abnormality sequencing (MGA-Seq) — to simultaneously detect structural variation, copy number variation,
Da Lin +33 more
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Genomic technologies to improve variation identification in undiagnosed diseases
Pediatrics and Neonatology, 2023 Human genome variation has increasingly posed challenges and opportunities for patients, medical providers, and an increasing group of stakeholders including advocacy groups, disadvantaged communities, public health experts, and scientists.
Joseph T.C. Shieh
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Resequencing of durian genomes reveals large genetic variations among different cultivars
Frontiers in Plant Science, 2023 Durian (Durio zibethinus), which yields the fruit known as the “King of Fruits,” is an important economic crop in Southeast Asia. Several durian cultivars have been developed in this region.
Wanapinun Nawae +7 more
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Biomolecules, 2023 Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
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