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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
BackgroundImprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes...
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Multi-ancestry genome-wide association study of major depression aids locus discovery, fine map**, gene prioritization and causal inference
Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples of European ancestry. Here we report a...
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FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids
Recent technological developments have led to widespread applications of large-scale transcriptomics-based sequencing methods to identify...
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Genotype × environment interactions in gene regulation and complex traits
Genotype × environment interactions (GxE) have long been recognized as a key mechanism underlying human phenotypic variation. Technological...
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Multi-locus sequence analyses reveal a clonal L. borgpetersenii genotype in a heterogeneous invasive Rattus spp. community across the City of Johannesburg, South Africa
BackgroundRattus spp. are frequently implicated as key reservoir hosts for leptospirosis, one of the most common, but neglected, bacterial zoonoses...
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
BackgroundBeckwith–Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the...
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Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
BackgroundGenome-wide association studies (GWASs) have identified thousands of variants associated with asthma and other complex diseases. However,...
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A proposed update of African swine fever virus (genotype II) subgenoty** based on the central variable region (CVR) of Russian isolates
African swine fever virus (ASFV) isolates are grouped and tracked through analysis of their central variable region (CVR) sequences. In this study,...
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Multi-locus genome-wide association studies (ML-GWAS) reveal novel genomic regions associated with seedling and adult plant stage leaf rust resistance in bread wheat (Triticum aestivum L.)
Leaf rust is one of the important diseases limiting global wheat production and productivity. To identify quantitative trait nucleotides (QTNs) or...
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Prevalence and genotype distribution of HPV infections among women in Chengdu,China
BackgroundHuman papilloma virus (HPV) infection among female is the cause of cervical cancer and genital warts. In China, the HPV vaccination rate...
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Genotype–phenotype correlation in PRKN-associated Parkinson’s disease
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN -PD were...
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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
BackgroundJuvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9...
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Revealing Genotype–Phenotype Interactions: The AgroLD Experience and Challenges
Understanding genotype–phenotype relationships is one of the most important areas of research in agronomy. The new challenges aim at understanding...
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Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer’s disease
Triggering receptor expressed on myeloid cells 2 (TREM2) plays a critical role in microglial activation, survival, and apoptosis, as well as in...
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Virulence, phenotype and genotype characteristics of invasive group B Streptococcus isolates obtained from Swedish pregnant women and neonates
Group B streptococci (GBS) are bacteria that can cause preterm birth and invasive neonatal disease. Heterogeneous expression of virulence factors...
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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
BackgroundClinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genoty** platform...
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A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first...
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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
BackgroundPontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting...
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Giardia duodenalis multi-locus genotypes in dogs with different levels of synanthropism and clinical signs
BackgroundIn dogs, infections with Giardia duodenalis are mainly caused by assemblages C and D, but also by the potentially zoonotic assemblages A...