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Identification of two new genetic loci for high-resolution genotyping of Enterocytozoon bieneusi
Published 2025-01-01“…In this study, comparison of a clinical genome sequence (C44566) with the whole genome sequence of an E. bieneusi isolate (H348) in GenBank led to the selection of the hypothetical protein 1 (hp1) and tubulin 1 (tub1) loci. …”
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423
SNP discovery by exome capture and resequencing in a pea genetic resource collection
Published 2023-10-01“…The development of this resource paves the way for Genome-wide association studies and the development of powerful genotyping tools. …”
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424
Linking obesity-associated genotype to child language development: the role of early-life neurology-related proteomics and brain myelinationResearch in context
Published 2025-03-01“…Interpretation: This study demonstrates the potential of examining early-life proteomics in conjunction with deep genotyping and phenotyping and provides biological insights into the shared genomic links between obesity and language development. …”
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425
Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
Published 2025-02-01“…BackgroundGenomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes. …”
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426
Cryptic species and hybridisation in corals: challenges and opportunities for conservation and restoration
Published 2024-11-01“…Here, we investigate the prevalence of cryptic coral groups and assess evidence for their permeability to gene flow (hybridisation) via a structured literature review of genomic studies. Using reproducible criteria to detect distinct genetic groups that are sympatric, we find that 68% of nominal species represented in population genomic studies show evidence for comprising partially reproductively isolated groups and that these distinct groups are often linked by gene flow. …”
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427
Co-obligate symbioses have repeatedly evolved across aphids, but partner identity and nutritional contributions vary across lineages
Published 2023-05-01“…Lastly, patterns of Buchnera genome evolution reveal that small losses affecting a few key genes can be the onset of these dual systems, while large gene losses can occur without any co-obligate symbiont acquisition. …”
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428
Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy
Published 2025-02-01“…Following BF aspiration and whole genome amplification, BF-DNA level was quantified. …”
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429
T7 DNA polymerase treatment improves quantitative sequencing of both double-stranded and single-stranded DNA viruses
Published 2024-07-01“…Bulk microbiome, as well as virome-enriched shotgun sequencing only reveals the double-stranded DNA (dsDNA) content of a given sample, unless specific treatments are applied. However, genomes of viruses often consist of a circular single-stranded DNA (ssDNA) molecule. …”
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430
A catechol-O-methyltransferase genetic variant impacts functional movement in tactical athletes.
Published 2025-01-01“…In resource constrained settings, genomic modeling may help to direct limited assets to at-risk subgroups (for screening purposes). …”
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431
Chromatin remodeling (SWI/SNF) complexes, cancer, and response to immunotherapy
Published 2022-09-01“…Significantly, ~20% of malignancies harbor alterations in >1 of these subunits, making the genes encoding SWI/SNF family members among the most vulnerable to genomic aberrations in cancer. ARID1A is the largest subunit of the SWI/SNF complex and is altered in ~40%–50% of ovarian clear cell cancers and ~15%–30% of cholangiocarcinomas, in addition to a variety of other malignancies. …”
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Single-nucleotide polymorphisms in dizygotic twin ovine fetuses are associated with discordant responses to antenatal steroid therapy
Published 2025-02-01“…We aimed to test the degree of concordance in preterm lung function, and correlate this with genomic, transcriptomic, and pharmacokinetic variables in preterm dizygotic twin ovine fetuses. …”
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Solid Predominant Histology and High Podoplanin Expression in Cancer-Associated Fibroblast Predict Primary Resistance to Osimertinib in EGFR-Mutated Lung Adenocarcinoma
Published 2025-03-01“…We also investigated HGF mRNA expression levels, using The Cancer Genome Atlas Program and Singapore Oncology Data Portal cohorts. …”
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Polygenic prediction of human longevity on the supposition of pervasive pleiotropy
Published 2024-08-01“…We showed that coefficients derived from our ensemble model could potentially reveal an interesting pattern of genomic pleiotropy specific to lifespan. We assessed the predictive performance of our model for distinguishing the enrichment of exceptional longevity among long-lived individuals in two replication cohorts (the Scripps Wellderly cohort and the Medical Genome Reference Bank (MRGB)) and showed that the median lifespan in the highest decile of our composite prognostic index is up to 4.8 years longer. …”
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Genetic Evidence for Geographic Structure within the Neanderthal Population
Published 2024-07-01“…It argues that the observed pattern results from subdivision and gene flow. If two haploid genomes are sampled from the same subpopulation, their recent ancestors are likely to be geographic neighbors and therefore coalesce rapidly. …”
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Egg Microinjection for the Ladybird Beetle Harmonia axyridis
Published 2024-12-01“…Our step-by-step protocol is applicable to generating transgenic or genome-edited ladybird beetles, facilitating functional genetics in H. axyridis; the microinjection method should be applicable to other insect eggs.…”
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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Published 2025-04-01“…This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.…”
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