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Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation
Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
A complex duplication overlapping FBRSL1 implicated in a developmental and epileptic encephalopathy
A complex duplication overlapping FBRSL1 implicated in a developmental and epileptic encephalopathy
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Genomic ascertainment of PALB2-related cancer predisposition
Genomic ascertainment of PALB2-related cancer predisposition
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
RD-Embed: Unified representations of rare-disease knowledge from clinical records
RD-Embed: Unified representations of rare-disease knowledge from clinical records
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic Diagnosis
Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic Diagnosis
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Investigating the shared genetic architecture between chronic pain and depression
Investigating the shared genetic architecture between chronic pain and depression
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Comparing Cardiac Genetic Testing Pathways: Impacts on Access, Informed Choice, and Decisional Satisfaction
Comparing Cardiac Genetic Testing Pathways: Impacts on Access, Informed Choice, and Decisional Satisfaction
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Mutation-specific impairment of TET2 and DNMT3A enzymatic activity predicts clonal hematopoiesis disease risk
Mutation-specific impairment of TET2 and DNMT3A enzymatic activity predicts clonal hematopoiesis disease risk
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Shared Genetic Architecture Between Kidney Function and Alzheimer Disease Across Ancestries
Shared Genetic Architecture Between Kidney Function and Alzheimer Disease Across Ancestries
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients
PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits
Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Implementing Reproductive Carrier Screening to Include Diverse Asian Populations: Insights from Singapore
Implementing Reproductive Carrier Screening to Include Diverse Asian Populations: Insights from Singapore
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
A non-coding variant at 2p24.2 confers susceptibility to non-syndromic cleft lip and palate through LLPS-dependent regulation of MYCN
A non-coding variant at 2p24.2 confers susceptibility to non-syndromic cleft lip and palate through LLPS-dependent regulation of MYCN
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Religious beliefs and practices, political orientation, and distrust in healthcare predict attitudes toward mRNA vaccines in the United States
Religious beliefs and practices, political orientation, and distrust in healthcare predict attitudes toward mRNA vaccines in the United States
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders
Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program
Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden
Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Proteogenomic analysis of 5,411 plasma proteins in sickle cell disease patients
Proteogenomic analysis of 5,411 plasma proteins in sickle cell disease patients
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts
Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts
medRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientifi...
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
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