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Genetic Insight into the Paradoxical Relationship among Diabetes, Coronary Artery Disease, and Abdominal Aortic Aneurysm
Genetic Insight into the Paradoxical Relationship among Diabetes, Coronary Artery Disease, and Abdominal Aortic Aneurysm
medRxiv - The Preprint Server for Health Sciences
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
medRxiv - The Preprint Server for Health Sciences
Analysis of plasma DNA fragmentation patterns from dried blood spots
Analysis of plasma DNA fragmentation patterns from dried blood spots
medRxiv - The Preprint Server for Health Sciences
Genome Sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Genome Sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
medRxiv - The Preprint Server for Health Sciences
Comparing tangible retinal image characteristics with deep learning features reveals their complementarity for gene association and disease prediction
Comparing tangible retinal image characteristics with deep learning features reveals their complementarity for gene association and disease prediction
medRxiv - The Preprint Server for Health Sciences
GDBIG: the first birth cohort genomic database and platform facilitating intergenerational genetic research
GDBIG: the first birth cohort genomic database and platform facilitating intergenerational genetic research
medRxiv - The Preprint Server for Health Sciences
Segpy: a streamlined, user-friendly pipeline for variant segregation analysis
Segpy: a streamlined, user-friendly pipeline for variant segregation analysis
medRxiv - The Preprint Server for Health Sciences
Preventing premature deaths through polygenic risk scores
Preventing premature deaths through polygenic risk scores
medRxiv - The Preprint Server for Health Sciences
Subtyping of Type 2 Diabetes from a large Middle Eastern Biobank: Implications for Precision Medicine
Subtyping of Type 2 Diabetes from a large Middle Eastern Biobank: Implications for Precision Medicine
medRxiv - The Preprint Server for Health Sciences
Unraveling genetic mysteries: phenotype-shaping profiles in chronic sarcoidosis
Unraveling genetic mysteries: phenotype-shaping profiles in chronic sarcoidosis
medRxiv - The Preprint Server for Health Sciences
Insights into DEPDC5-Related Epilepsy from 586 people: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
Insights into DEPDC5-Related Epilepsy from 586 people: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
medRxiv - The Preprint Server for Health Sciences
Gene-Burden Meta-Analysis of 748,879 Individuals Identifies LGI1-ADAM23 Protein Complex Association with Epilepsy
Gene-Burden Meta-Analysis of 748,879 Individuals Identifies LGI1-ADAM23 Protein Complex Association with Epilepsy
medRxiv - The Preprint Server for Health Sciences
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
medRxiv - The Preprint Server for Health Sciences
Genomic diversity and BCL9L mutational status in CTC pools predict overall survival in metastatic colorectal cancer
Genomic diversity and BCL9L mutational status in CTC pools predict overall survival in metastatic colorectal cancer
medRxiv - The Preprint Server for Health Sciences
Integrating GWAS and Transcriptome Data through PrediXcan and Multimodal Deep Learning to Reveal Genetic Basis and Novel Drug Repositioning Opportunities for Alzheimer's Disease
Integrating GWAS and Transcriptome Data through PrediXcan and Multimodal Deep Learning to Reveal Genetic Basis and Novel Drug Repositioning Opportunities for Alzheimer's Disease
medRxiv - The Preprint Server for Health Sciences
Genetic Modifiers of Prenatal Brain Injury After Zika Virus Infection: A Scoping Review
Genetic Modifiers of Prenatal Brain Injury After Zika Virus Infection: A Scoping Review
medRxiv - The Preprint Server for Health Sciences
A semi-empirical Bayes approach for calibrating weak instrumental bias in sex-specific Mendelian randomization studies
A semi-empirical Bayes approach for calibrating weak instrumental bias in sex-specific Mendelian randomization studies
medRxiv - The Preprint Server for Health Sciences
The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort
The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort
medRxiv - The Preprint Server for Health Sciences
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
medRxiv - The Preprint Server for Health Sciences
Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia
Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia
medRxiv - The Preprint Server for Health Sciences
Colorectal cancer risk stratification using a polygenic risk score in symptomatic patients presenting to primary care -- a UK Biobank retrospective cohort study
Colorectal cancer risk stratification using a polygenic risk score in symptomatic patients presenting to primary care -- a UK Biobank retrospective cohort study
medRxiv - The Preprint Server for Health Sciences
ADHD and Intelligence polygenic scores and their associations with dimensional developmental characteristics within a paediatric transdiagnostic cohort
ADHD and Intelligence polygenic scores and their associations with dimensional developmental characteristics within a paediatric transdiagnostic cohort
medRxiv - The Preprint Server for Health Sciences
Whole-genome sequencing of half-a-million UK Biobank participants
Whole-genome sequencing of half-a-million UK Biobank participants
medRxiv - The Preprint Server for Health Sciences
Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure
Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure
medRxiv - The Preprint Server for Health Sciences
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
medRxiv - The Preprint Server for Health Sciences
Ancestry Specific Polygenic Risk Score, Dietary Patterns, Physical Activity, and Cardiovascular Disease
Ancestry Specific Polygenic Risk Score, Dietary Patterns, Physical Activity, and Cardiovascular Disease
medRxiv - The Preprint Server for Health Sciences
Proteome-wide Mendelian Randomization Analysis Identified Potential Drug Targets for Myocardial Infarction
Proteome-wide Mendelian Randomization Analysis Identified Potential Drug Targets for Myocardial Infarction
medRxiv - The Preprint Server for Health Sciences
Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing
Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing
medRxiv - The Preprint Server for Health Sciences
Implementing a Pharmacogenomic-driven Algorithm to Guide Antiplatelet Therapy among Caribbean Hispanics: A Nonrandomized Prospective Cohort Study.
Implementing a Pharmacogenomic-driven Algorithm to Guide Antiplatelet Therapy among Caribbean Hispanics: A Nonrandomized Prospective Cohort Study.
medRxiv - The Preprint Server for Health Sciences
Genomic and immune determinants of resistance to anti-CD38 monoclonal antibody-based therapy in relapsed refractory multiple myeloma.
Genomic and immune determinants of resistance to anti-CD38 monoclonal antibody-based therapy in relapsed refractory multiple myeloma.
medRxiv - The Preprint Server for Health Sciences
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