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Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong–Mein-related lineage and biological adaptation history in Southwest China
BackgroundFine-scale genetic structure of ethnolinguistically diverse Chinese populations can fill the gap in the missing diversity and evolutionary...
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Single-haplotype comparative genomics provides insights into lineage-specific structural variation during cat evolution
The role of structurally dynamic genomic regions in speciation is poorly understood due to challenges inherent in diploid genome assembly. Here we...
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Public platform with 39,472 exome control samples enables association studies without genotype sharing
Acquiring a sufficiently powered cohort of control samples matched to a case sample can be time-consuming or, in some cases, impossible. Accordingly,...
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Chromosome-scale and haplotype-resolved genome assembly of a tetraploid potato cultivar
Potato is the most widely produced tuber crop worldwide. However, reconstructing the four haplotypes of its autotetraploid genome remained an...
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Dissecting the loci underlying maturation timing in Atlantic salmon using haplotype and multi-SNP based association methods
Characterizing the role of different mutational effect sizes in the evolution of fitness-related traits has been a major goal in evolutionary biology...
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IBD sharing patterns as intra-breed admixture indicators in small ruminants
In this study, we investigated how IBD patterns shared between individuals of the same breed could be informative of its admixture level, with the...
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The antigen recognition portion of African buffalo class I MHC is highly polymorphic, consistent with a complex pathogen challenge environment, and the 3’ region suggests distinct haplotype configurations
African buffalo ( Syncerus caffer) have been distinct from the Auroch lineage leading to domestic cattle for 5 million years, and are reservoirs of...
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Molecular Characterization and Haplotype Analyses of Lung Hydatid Cyst Isolates of Cattle and First Report of Echinococcus canadensis (G6/G7) in Cattle Isolates in Turkey
PurposeCystic echinococcosis (CE) is a zoonotic disease, caused by parasite known as Echinococcus granulosus sensu lato complex, leading to...
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Graph-Based Imputation Methods and Their Applications to Single Donors and Families
The outcome of Hematopoietic Stem Cell (HSCT) and organ transplant is strongly affected by the matching of the HLA alleles of the donor and the...
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
BackgroundThe BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic...
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Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East
PurposeWe aimed to determine the origin and genetic characteristics of Huntington disease (HD) in the Middle East.
MethodsWe performed genetic and...
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Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection
Recombination events establish the patterns of haplotypic structure in a population and estimates of recombination rates are used in several...
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New insights on the phylogeography of Hepatozoon canis in Brazil
This study aimed to molecularly characterize the Hepatozoon spp. infecting domestic and wild dogs in Brazil. A total of 22 whole blood samples tested...
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral...
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High Genetic Differentiation and Genetic Diversity in Endangered Mahseer Tor khudree (Sykes, 1839) as Revealed from Concatenated ATPase 6/8 and Cyt b Mitochondrial Genes
The Deccan mahseer, Tor khudree (Sykes 1839), belonging to family Cyprinidae is an important food and a game fish distributed in peninsular India....
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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Widely used genotype imputation methods are based on the Li and Stephens model, which assumes that new haplotypes can be represented by modifying...
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Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association...
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Accurate detection of identity-by-descent segments in human ancient DNA
Long DNA segments shared between two individuals, known as identity-by-descent (IBD), reveal recent genealogical connections. Here we introduce...
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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named...
