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Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
medRxiv - The Preprint Server for Health Sciences
Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory
Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory
medRxiv - The Preprint Server for Health Sciences
Conversational Artificial Intelligence for Translational Precision Medicine: Integrating Social Determinants of Health, Genomics, and Clinical Data with AI-HOPE-PM
Conversational Artificial Intelligence for Translational Precision Medicine: Integrating Social Determinants of Health, Genomics, and Clinical Data with AI-HOPE-PM
medRxiv - The Preprint Server for Health Sciences
Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset
Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset
medRxiv - The Preprint Server for Health Sciences
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy
medRxiv - The Preprint Server for Health Sciences
Genomic and molecular evidence that the lncRNA DSP-AS1 modulates Desmoplakin expression
Genomic and molecular evidence that the lncRNA DSP-AS1 modulates Desmoplakin expression
medRxiv - The Preprint Server for Health Sciences
Cognitively healthy centenarians are characterized by lower frequencies of six disease-associated HLA alleles
Cognitively healthy centenarians are characterized by lower frequencies of six disease-associated HLA alleles
medRxiv - The Preprint Server for Health Sciences
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation
medRxiv - The Preprint Server for Health Sciences
Human and bacterial genetic variation shape oral microbiomes and health
Human and bacterial genetic variation shape oral microbiomes and health
medRxiv - The Preprint Server for Health Sciences
Identification of lncRNAs differentially expressed in Alzheimer's disease brains using RNA sequencing
Identification of lncRNAs differentially expressed in Alzheimer's disease brains using RNA sequencing
medRxiv - The Preprint Server for Health Sciences
The association between salivary amylase gene copy number and enzyme activity with type 2 diabetes status
The association between salivary amylase gene copy number and enzyme activity with type 2 diabetes status
medRxiv - The Preprint Server for Health Sciences
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
medRxiv - The Preprint Server for Health Sciences
Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences
Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences
medRxiv - The Preprint Server for Health Sciences
A framework for studying multi-omic risk factors and their interplay: application to coronary artery disease
A framework for studying multi-omic risk factors and their interplay: application to coronary artery disease
medRxiv - The Preprint Server for Health Sciences
Exploring causal relationships and shared genomic signatures of coronary artery disease and stroke
Exploring causal relationships and shared genomic signatures of coronary artery disease and stroke
medRxiv - The Preprint Server for Health Sciences
Investigating the genetic factors of medication dosing using biobank-linked drug purchase data
Investigating the genetic factors of medication dosing using biobank-linked drug purchase data
medRxiv - The Preprint Server for Health Sciences
Structure-informed classification of RyR1 variants highlights limitations of current predictors and enables clinical interpretation
Structure-informed classification of RyR1 variants highlights limitations of current predictors and enables clinical interpretation
medRxiv - The Preprint Server for Health Sciences
Using Networks and Prior Knowledge to Uncover Novel Rare Disease Phenotypes
Using Networks and Prior Knowledge to Uncover Novel Rare Disease Phenotypes
medRxiv - The Preprint Server for Health Sciences
Omics-Based Computational Approaches for Biomarker Identification, Prediction, and Treatment of Long COVID
Omics-Based Computational Approaches for Biomarker Identification, Prediction, and Treatment of Long COVID
medRxiv - The Preprint Server for Health Sciences
Decoding Non-coding SNPs: Systems Genomics Modelling Dissects the Heterogeneity of IBD
Decoding Non-coding SNPs: Systems Genomics Modelling Dissects the Heterogeneity of IBD
medRxiv - The Preprint Server for Health Sciences
HORNET: Tools to find genes with causal evidence and their regulatory networks using eQTLs
HORNET: Tools to find genes with causal evidence and their regulatory networks using eQTLs
medRxiv - The Preprint Server for Health Sciences
Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level
Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level
medRxiv - The Preprint Server for Health Sciences
Rare diseases load through the study of a regional population
Rare diseases load through the study of a regional population
medRxiv - The Preprint Server for Health Sciences
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations
medRxiv - The Preprint Server for Health Sciences
Sperm sequencing reveals extensive positive selection in the male germline
Sperm sequencing reveals extensive positive selection in the male germline
medRxiv - The Preprint Server for Health Sciences
Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals
Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals
medRxiv - The Preprint Server for Health Sciences
Primary Care Providers' Perspectives on Receiving Tier 1 Genomic Results from a National Study- the Million Veteran Program Return of Actionable Results (MVP-ROAR) Study
Primary Care Providers' Perspectives on Receiving Tier 1 Genomic Results from a National Study- the Million Veteran Program Return of Actionable Results (MVP-ROAR) Study
medRxiv - The Preprint Server for Health Sciences
Somatic mutation and selection at epidemiological scale
Somatic mutation and selection at epidemiological scale
medRxiv - The Preprint Server for Health Sciences
Association between polygenic risk and survival in breast cancer patients
Association between polygenic risk and survival in breast cancer patients
medRxiv - The Preprint Server for Health Sciences
Immune cell distributions in the blood of healthy individuals at high genetic risk of Parkinson's disease
Immune cell distributions in the blood of healthy individuals at high genetic risk of Parkinson's disease
medRxiv - The Preprint Server for Health Sciences
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