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Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms
Published 2020-03-01Subjects: Get full text
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Genome-wide association studies are enriched for interacting genes
Published 2025-01-01Subjects: Get full text
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Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation
Published 2024-07-01Subjects: Get full text
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Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibiti...
Published 2025-01-01Subjects: “…D417N variant…”
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Clinical characteristics and outcomes of children with COVID-19 in pediatric intensive care units during the Omicron wave in Taiwan
Published 2025-02-01Subjects: Get full text
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Coronil effectively inhibits the interaction of clinically relevant Omicron mutants of SARS-CoV-2 spike proteins with human ACE2 receptor
Published 2025-02-01Subjects: Get full text
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Cryptic transmission of a SARS-CoV-2 variant detected by wastewater surveillance in Panama
Published 2025-01-01Subjects: Get full text
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Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies
Published 2025-01-01Subjects: Get full text
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Fortifying defenses: Tactical safety protocols for COVID-19 sub-variant JN.1 in healthcare and laboratory settings
Published 2025-01-01Subjects: “…covid-19 sub-variant jn.1…”
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Comparison of autism domains across thirty rare variant genotypesResearch in context
Published 2025-02-01Subjects: Get full text
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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema
Published 2024-09-01Subjects: Get full text
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A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data
Published 2013-12-01Subjects: Get full text
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First detection of recombinant variant of African swine fever virus in the Russian Federation (brief communication)
Published 2024-09-01Subjects: Get full text
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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
Published 2014-12-01Subjects: Get full text
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Sex-specific anatomical variation of circle of Willis arteries
Published 2025-02-01Subjects: Get full text
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Afasia primaria progresiva: aproximación clínica a un complejo síndrome neurobiológico
Published 2024-10-01Subjects: “…Afasia primaria progresiva. Variante no fluente/agramatical. Variante semántica. …”
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Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing
Published 2025-01-01Subjects: Get full text
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Imaging surprise: Incidentally detected duplication of gall bladders in a case of ruptured liver abscess: A rare case report
Published 2025-04-01Subjects: Get full text
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Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration
Published 2025-02-01Subjects: “…Behavioral variant frontotemporal dementia…”
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