SCI Abstract

search
+
Expression and polymorphism of KLF14 and SR-B1 genes in cholesterol gallstones
Expression and polymorphism of KLF14 and SR-B1 genes in cholesterol gallstones
medRxiv - The Preprint Server for Health Sciences
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits
medRxiv - The Preprint Server for Health Sciences
Identification and Validation of Novel Combinatorial Genetic Risk Factors for Endometriosis across Multiple UK and US Patient Cohorts
Identification and Validation of Novel Combinatorial Genetic Risk Factors for Endometriosis across Multiple UK and US Patient Cohorts
medRxiv - The Preprint Server for Health Sciences
Genetic association of T1D stratified by HLA DR3 and DR4 status reveals heterogeneity in pathways of progression to T1D
Genetic association of T1D stratified by HLA DR3 and DR4 status reveals heterogeneity in pathways of progression to T1D
medRxiv - The Preprint Server for Health Sciences
Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals
Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals
medRxiv - The Preprint Server for Health Sciences
From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence
From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence
medRxiv - The Preprint Server for Health Sciences
Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients
Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients
medRxiv - The Preprint Server for Health Sciences
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
medRxiv - The Preprint Server for Health Sciences
Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associations
Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associations
medRxiv - The Preprint Server for Health Sciences
Artificial Intelligence-Enabled Precision Medicine Reveals Prognostic Impact of TGF-Beta Pathway Alterations in FOLFOX-Treated Early-Onset Colorectal Cancer Among Disproportionately Affected Populations
Artificial Intelligence-Enabled Precision Medicine Reveals Prognostic Impact of TGF-Beta Pathway Alterations in FOLFOX-Treated Early-Onset Colorectal Cancer Among Disproportionately Affected Populations
medRxiv - The Preprint Server for Health Sciences
Disparities and trends in global representation of human genetics conferences: a 26-year longitudinal study of ASHG and ESHG
Disparities and trends in global representation of human genetics conferences: a 26-year longitudinal study of ASHG and ESHG
medRxiv - The Preprint Server for Health Sciences
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
medRxiv - The Preprint Server for Health Sciences
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
medRxiv - The Preprint Server for Health Sciences
Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease
Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease
medRxiv - The Preprint Server for Health Sciences
Sample Size Requirements for Machine Learning Classification of Binary Outcomes in Bulk RNA-Seq Data
Sample Size Requirements for Machine Learning Classification of Binary Outcomes in Bulk RNA-Seq Data
medRxiv - The Preprint Server for Health Sciences
Complementarity of long-read sequencing and optical genome mapping in Parkinson's disease
Complementarity of long-read sequencing and optical genome mapping in Parkinson's disease
medRxiv - The Preprint Server for Health Sciences
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs
medRxiv - The Preprint Server for Health Sciences
Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects
Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects
medRxiv - The Preprint Server for Health Sciences
Artificial Intelligence-Guided Molecular Determinants of PI3K Pathway Alterations in Early-Onset Colorectal Cancer Among High-Risk Groups Receiving FOLFOX
Artificial Intelligence-Guided Molecular Determinants of PI3K Pathway Alterations in Early-Onset Colorectal Cancer Among High-Risk Groups Receiving FOLFOX
medRxiv - The Preprint Server for Health Sciences
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
Load More
format_indent_increase