Results 21 to 30 of about 363,020 (279)
Structural variation in the 3D genome [PDF]
Nature Reviews Genetics, 2018 Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics.
Malte Spielmann +2 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
doaj +1 more source
Structural and genomic variation in preterm birth [PDF]
Pediatric Research, 2016 Runs of homozygosity (ROH) are consecutive homozygous genotypes, which may result from population inbreeding or consanguineous marriages. ROH enhance the expression of recessive traits.We mapped ROH in a case control study of women delivering at term compared with women delivering at or before 34 wk gestation. Gene sets known to be important in risk of
Uzun, Alper +6 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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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
doaj +1 more source
Structural variations in cancer and the 3D genome
Nature Reviews Cancer, 2022 Structural variations (SVs) affect more of the cancer genome than any other type of somatic genetic alteration but difficulties in detecting and interpreting them have limited our understanding. Clinical cancer sequencing also increasingly aims to detect SVs, leading to a widespread necessity to interpret their biological and clinical relevance ...
Frank Dubois +3 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
doaj +1 more source
Structural genomic variation in ischemic stroke [PDF]
Neurogenetics, 2008 Technological advances in molecular genetics allow rapid and sensitive identification of genomic copy number variants (CNVs). This, in turn, has sparked interest in the function such variation may play in disease. While a role for copy number mutations as a cause of Mendelian disorders is well established, it is unclear whether CNVs may affect risk for
Mar, Matarin +17 more
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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 +7 more
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Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]
, 2016 The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana +21 more
core +3 more sources