Results 11 to 20 of about 15,084,422 (295)
Patterns of somatic structural variation in human cancer genomes
Nature, 2020 A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1–7.
Yi-Long Li +13 more
semanticscholar +2 more sources
PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting
Clinical pharmacology and therapy, 2023 The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation.
Amy J Turner +16 more
semanticscholar +2 more sources
Nature Genetics, 2023 A tomato super-pangenome constructed using chromosome-scale genomes of nine wild species and two cultivated accessions highlights genomic diversity and structural variation across wild and cultivated tomatoes.
Ning Li +24 more
semanticscholar +1 more source
Pangenomic analysis identifies structural variation associated with heat tolerance in pearl millet
Nature Genetics, 2023 Pearl millet is an important cereal crop worldwide and shows superior heat tolerance. Here, we developed a graph-based pan-genome by assembling ten chromosomal genomes with one existing assembly adapted to different climates worldwide and captured 424 ...
Hai-Dong Yan +25 more
semanticscholar +1 more source
The effects of common structural variants on 3D chromatin structure
BMC Genomics, 2020 Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs).
Omar Shanta +3 more
doaj +1 more source
SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor
Animals, 2021 The genetic diversity of the GH/IGF axis genes and their association with the variation of gene expression and phenotypic traits, principally represented by SNPs, have been extensively reported.
Cai Chen +8 more
doaj +1 more source
Pangenome-genotyped structural variation improves molecular phenotype mapping in cattle
bioRxiv, 2023 Expression and splicing quantitative trait loci (e/sQTL) are large contributors to phenotypic variability. Achieving sufficient statistical power for e/sQTL mapping requires large cohorts with both genotypes and molecular phenotypes, and so the genomic ...
A. Leonard, X. Mapel, H. Pausch
semanticscholar +1 more source
Frontiers in Plant Science, 2022 OVATE genes are a new class of transcriptional repressors with important regulatory roles in plant growth and development. Through genome-wide analysis of the OVATE gene family of tea plants, 26 and 13 family members were identified in cultivated and ...
Yanlin An +3 more
doaj +1 more source
Nature Genetics, 2023 Single-haplotype genome assemblies from five cat species shed light on the dynamics of structural variations during felid radiation and resolve sensory gene repertoires associated with adaptation and domestication.
K. Bredemeyer +15 more
semanticscholar +1 more source
Frontiers in Oncology, 2022 Risk-adapted treatment in acute lymphoblastic leukemia (ALL) relies on genetic information and measurable residual disease (MRD) monitoring. In this proof of concept study, DNA from diagnostic bone marrow (BM) of six children with ALL, without ...
Cecilia Arthur +16 more
doaj +1 more source