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MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
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Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
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Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling
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Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
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Dispersed DNA variants underlie hearing loss in South Florida’s minority population
We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing...
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A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics
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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
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Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases
Comorbidities of coronavirus disease 2019 (COVID-19)/coronary heart disease (CHD) pose great threats to disease outcomes, ...
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Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids
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The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study
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Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
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FGFR1 variants contributed to families with tooth agenesis
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
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Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis
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The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian randomization study
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ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis
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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
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