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SNP-based and haplotype-based genome-wide association on drug dependence in Han Chinese
BackgroundDrug addiction is a serious problem worldwide and is influenced by genetic factors. The present study aimed to investigate the association...
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Association of SOD2 rs2758339, rs5746136 and rs2842980 polymorphisms with increased risk of breast cancer: a haplotype-based case–control study
BackgroundA growing body of evidence indicates that oxidative stress, high levels of reactive oxygen species (ROS), is implicated in the pathogenesis...
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Sparse Phenoty** and Haplotype-Based Models for Genomic Prediction in Rice
The multi-environment genomic selection enables plant breeders to select varieties resilient to diverse environments or particularly adapted to...
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Haplotype-aware pantranscriptome analyses using spliced pangenome graphs
Pangenomics is emerging as a powerful computational paradigm in bioinformatics. This field uses population-level genome reference structures,...
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A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation
The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development...
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Major chromosome 5H haplotype switch structures the European two-rowed spring barley germplasm of the past 190 years
Key messageSelection over 70 years has led to almost complete fixation of a haplotype spanning ~ 250 Mbp of chomosome 5H in European two-rowed spring...
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Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability
BackgroundRecessive deleterious variants are known to segregate in livestock populations, as in humans, and some may be lethal in the homozygous...
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Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks
Sample recruitment for research consortia, biobanks, and personal genomics companies span years, necessitating genoty** in batches, using different...
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Expanding the application of haplotype-based genomic predictions to the wild: A case of antibody response against Teladorsagia circumcincta in Soay sheep
BackgroundGenomic prediction of breeding values (GP) has been adopted in evolutionary genomic studies to uncover microevolutionary processes of wild...
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Haplotype-Assisted Noninvasive Prenatal Diagnosis of Genetic Diseases by Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA
Early prenatal diagnosis of genetic diseases allows for timely intervention or prevention of the diseases in newborns. Conventional prenatal...
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ADA gene haplotype is associated with coronary-in-stent-restenosis
BackgroundCardiovascular diseases (CVDs) are the most common and the first cause of death worldwide. While some studies have investigated the...
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Identification and transfer of a new Pm21 haplotype with high genetic diversity and a special molecular resistance mechanism
Key messageA new functional Pm21 haplotype, Pm21(8#) , was cloned from the new wheat- H. villosa translocation line T6VS(8#)·6DL, which confers the...
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Long range PCR-based deep sequencing for haplotype determination in mixed HCMV infections
BackgroundShort read sequencing has been used extensively to decipher the genome diversity of human cytomegalovirus (HCMV) strains, but falls short...
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The origins of haplotype 58 (H58) Salmonella enterica serovar Typhi
Antimicrobial resistance (AMR) poses a serious threat to the clinical management of typhoid fever. AMR in Salmonella Typhi ( S . Typhi) is commonly...
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HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity
BackgroundHuman leukocyte antigen (HLA)-A*03, hemochromatosis ancestral haplotype marker, was associated with greater iron overload in...
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Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
Canine atopic dermatitis is an inflammatory skin disease with clinical similarities to human atopic dermatitis. Several dog breeds are at increased...
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Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction
Polygenic risk score (PRS) is useful for capturing an individual’s genetic susceptibility. However, previous studies have not fully exploited the...
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Association between the AKT1 single nucleotide polymorphism (rs2498786, rs2494752 and rs5811155) and microscopic polyangiitis risk in a Chinese population
Microscopic polyangiitis (MPA) is an autoimmune disease, characterized by ANCA in blood and necrotizing inflammation of small and medium-sized...
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Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach
Elevated serum uric acid (SUA)—hyperuricemia—is caused by overproduction of urate or by its decreased renal and/or intestinal excretion. This...
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Human NCR3 gene variants rs2736191 and rs11575837 alter longitudinal risk for development of pediatric malaria episodes and severe malarial anemia
BackgroundPlasmodium falciparum malaria is a leading cause of pediatric morbidity and mortality in holoendemic transmission areas. Severe malarial...
