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Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk
Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk
medRxiv - The Preprint Server for Health Sciences
The evolutionary landscape of host immunity genes involved in respiratory and other immune-related diseases, and their association with severe COVID-19 outcomes
The evolutionary landscape of host immunity genes involved in respiratory and other immune-related diseases, and their association with severe COVID-19 outcomes
medRxiv - The Preprint Server for Health Sciences
Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy
Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy
medRxiv - The Preprint Server for Health Sciences
rRNA paralogs with variations, rRNA-subtypes, affect diverse human phenotypes
rRNA paralogs with variations, rRNA-subtypes, affect diverse human phenotypes
medRxiv - The Preprint Server for Health Sciences
The impact of polygenic score and socioeconomic status in predicting risk for 19 complex diseases
The impact of polygenic score and socioeconomic status in predicting risk for 19 complex diseases
medRxiv - The Preprint Server for Health Sciences
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
medRxiv - The Preprint Server for Health Sciences
Lower Hippocampal Volume Partly Mediates the Association Between rs6859 in the NECTIN2 Gene and Alzheimer's Disease: New Findings from Causal Mediation Analysis of ADNI Data
Lower Hippocampal Volume Partly Mediates the Association Between rs6859 in the NECTIN2 Gene and Alzheimer's Disease: New Findings from Causal Mediation Analysis of ADNI Data
medRxiv - The Preprint Server for Health Sciences
Multi-ancestry genome-wide association study of endometriosis and its clinical manifestations in ~1.4 million women: translating gene discovery into pathogenic mechanisms and therapeutic targets
Multi-ancestry genome-wide association study of endometriosis and its clinical manifestations in ~1.4 million women: translating gene discovery into pathogenic mechanisms and therapeutic targets
medRxiv - The Preprint Server for Health Sciences
How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)
How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)
medRxiv - The Preprint Server for Health Sciences
The contribution of Apoliproprotein E genetic variation to dementia risk in British South Asians
The contribution of Apoliproprotein E genetic variation to dementia risk in British South Asians
medRxiv - The Preprint Server for Health Sciences
Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies
Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies
medRxiv - The Preprint Server for Health Sciences
aiDIVA - Diagnostics of Rare Genetic Diseases Using Large Language Models
aiDIVA - Diagnostics of Rare Genetic Diseases Using Large Language Models
medRxiv - The Preprint Server for Health Sciences
Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritization
Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritization
medRxiv - The Preprint Server for Health Sciences
GBA1 variants with unknown classification are modest contributors to Parkinson's disease susceptibility
GBA1 variants with unknown classification are modest contributors to Parkinson's disease susceptibility
medRxiv - The Preprint Server for Health Sciences
No Evidence for Genetic Role of the Tumor Necrosis Factor Pathway in Parkinson's Disease
No Evidence for Genetic Role of the Tumor Necrosis Factor Pathway in Parkinson's Disease
medRxiv - The Preprint Server for Health Sciences
Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links
Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links
medRxiv - The Preprint Server for Health Sciences
GWAS for Periodontitis Phenotypes Using Multi-Ancestry All of Us Research Platform
GWAS for Periodontitis Phenotypes Using Multi-Ancestry All of Us Research Platform
medRxiv - The Preprint Server for Health Sciences
PEStimate: Predicting offspring disease risk after Polygenic Embryo Screening
PEStimate: Predicting offspring disease risk after Polygenic Embryo Screening
medRxiv - The Preprint Server for Health Sciences
Multiple Psychiatric Traits Enriched for Brain Tissues in the Early Postpartum Period
Multiple Psychiatric Traits Enriched for Brain Tissues in the Early Postpartum Period
medRxiv - The Preprint Server for Health Sciences
Direct effect of genetic ancestry on complex traits in a Mexican population
Direct effect of genetic ancestry on complex traits in a Mexican population
medRxiv - The Preprint Server for Health Sciences
RB1 sequence variants in retinoblastoma. Analysis of RB1 variants in a database for correlation with pRB protein domains and clinical presentation
RB1 sequence variants in retinoblastoma. Analysis of RB1 variants in a database for correlation with pRB protein domains and clinical presentation
medRxiv - The Preprint Server for Health Sciences
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma
medRxiv - The Preprint Server for Health Sciences
NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
medRxiv - The Preprint Server for Health Sciences
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
medRxiv - The Preprint Server for Health Sciences
A compound heterozygosity of two haplotypes in the TTN gene contributes to risk for Cleft Lip and Palate in a recessive manner
A compound heterozygosity of two haplotypes in the TTN gene contributes to risk for Cleft Lip and Palate in a recessive manner
medRxiv - The Preprint Server for Health Sciences
Pan-Cancer Proteogenomic Network Analysis Uncovers Immune Microenvironment and Prognostic Biomarkers
Pan-Cancer Proteogenomic Network Analysis Uncovers Immune Microenvironment and Prognostic Biomarkers
medRxiv - The Preprint Server for Health Sciences
Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population
Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population
medRxiv - The Preprint Server for Health Sciences
Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping
Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping
medRxiv - The Preprint Server for Health Sciences
Genetic prediction and adverse selection
Genetic prediction and adverse selection
medRxiv - The Preprint Server for Health Sciences
Modeling diagnostic code dropout of schizophrenia in electronic health records improves phenotypic data quality and cross-ancestry transferability of polygenic scores
Modeling diagnostic code dropout of schizophrenia in electronic health records improves phenotypic data quality and cross-ancestry transferability of polygenic scores
medRxiv - The Preprint Server for Health Sciences
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