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Integrating spatial transcriptomics and snRNA-seq data enhances differential gene expression analysis results of AD-related phenotypes
Integrating spatial transcriptomics and snRNA-seq data enhances differential gene expression analysis results of AD-related phenotypes
medRxiv - The Preprint Server for Health Sciences
Associations between DNA methylation and cognitive function in early-stage hormone receptor-positive breast cancer patients
Associations between DNA methylation and cognitive function in early-stage hormone receptor-positive breast cancer patients
medRxiv - The Preprint Server for Health Sciences
Systematic comparison of phenome-wide admixture mapping and genome-wide association in a diverse biobank
Systematic comparison of phenome-wide admixture mapping and genome-wide association in a diverse biobank
medRxiv - The Preprint Server for Health Sciences
The extracellular vesicle transcriptome provides tissue-specific functional genomic annotation relevant to disease susceptibility in obesity
The extracellular vesicle transcriptome provides tissue-specific functional genomic annotation relevant to disease susceptibility in obesity
medRxiv - The Preprint Server for Health Sciences
Cross-ancestral GWAS identifies 29 novel variants across Head and Neck Cancer subsites
Cross-ancestral GWAS identifies 29 novel variants across Head and Neck Cancer subsites
medRxiv - The Preprint Server for Health Sciences
Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in FGF20 modified by differential methylation upstream of ZFP57
Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in FGF20 modified by differential methylation upstream of ZFP57
medRxiv - The Preprint Server for Health Sciences
Leveraging hierarchical structures for genetic block interaction studies using the hierarchical transformer
Leveraging hierarchical structures for genetic block interaction studies using the hierarchical transformer
medRxiv - The Preprint Server for Health Sciences
The founder missense mutation of WFDC2 leads to severe respiratory distress accompanied by bronchiectasis and rhinosinusitis
The founder missense mutation of WFDC2 leads to severe respiratory distress accompanied by bronchiectasis and rhinosinusitis
medRxiv - The Preprint Server for Health Sciences
Mapping rare protein-coding variants on multi-organ imaging traits
Mapping rare protein-coding variants on multi-organ imaging traits
medRxiv - The Preprint Server for Health Sciences
Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient/caregiver reported co-produced questionnaire
Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient/caregiver reported co-produced questionnaire
medRxiv - The Preprint Server for Health Sciences
Implementing a consultation service for translating genomic research findings into the clinic: lessons from the SickKids Genome Board
Implementing a consultation service for translating genomic research findings into the clinic: lessons from the SickKids Genome Board
medRxiv - The Preprint Server for Health Sciences
Uncovering causal gene-tissue pairs and variants: A multivariable TWAS method controlling for infinitesimal effects
Uncovering causal gene-tissue pairs and variants: A multivariable TWAS method controlling for infinitesimal effects
medRxiv - The Preprint Server for Health Sciences
HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING
HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING
medRxiv - The Preprint Server for Health Sciences
Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration
Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration
medRxiv - The Preprint Server for Health Sciences
Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation
Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation
medRxiv - The Preprint Server for Health Sciences
Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry
Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry
medRxiv - The Preprint Server for Health Sciences
Primary Central Nervous System Lymphoma Tumor Biopsies Show Heterogeneity in Gene Expression Profiles, Genetic Subtypes, and in vitro Drug Sensitivity to Kinase Inhibitors
Primary Central Nervous System Lymphoma Tumor Biopsies Show Heterogeneity in Gene Expression Profiles, Genetic Subtypes, and in vitro Drug Sensitivity to Kinase Inhibitors
medRxiv - The Preprint Server for Health Sciences
Genome-wide association study of varenicline-aided smoking cessation
Genome-wide association study of varenicline-aided smoking cessation
medRxiv - The Preprint Server for Health Sciences
Immune cell distributions in the blood of healthy individuals at high genetic risk for Alzheimer's disease and amyotrophic lateral sclerosis
Immune cell distributions in the blood of healthy individuals at high genetic risk for Alzheimer's disease and amyotrophic lateral sclerosis
medRxiv - The Preprint Server for Health Sciences
Single cell variant to enhancer to gene map for coronary artery disease
Single cell variant to enhancer to gene map for coronary artery disease
medRxiv - The Preprint Server for Health Sciences
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
medRxiv - The Preprint Server for Health Sciences
Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients
Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients
medRxiv - The Preprint Server for Health Sciences
Non-invasive Preimplantation Genetic Testing of Embryonic Genome in Spent Culture Medium
Non-invasive Preimplantation Genetic Testing of Embryonic Genome in Spent Culture Medium
medRxiv - The Preprint Server for Health Sciences
Loss of CFHR5 function reduces the risk for age-related macular degeneration
Loss of CFHR5 function reduces the risk for age-related macular degeneration
medRxiv - The Preprint Server for Health Sciences
Buffering and non-monotonic behavior of gene dosage response curves for human complex traits
Buffering and non-monotonic behavior of gene dosage response curves for human complex traits
medRxiv - The Preprint Server for Health Sciences
Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations
Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations
medRxiv - The Preprint Server for Health Sciences
EMT, angiogenesis, and cell-cycle pathways are significantly impacted in oral cancer patients, among whom a large fraction may potentially respond to immune checkpoint therapy
EMT, angiogenesis, and cell-cycle pathways are significantly impacted in oral cancer patients, among whom a large fraction may potentially respond to immune checkpoint therapy
medRxiv - The Preprint Server for Health Sciences
RNA expression data suggest ALDH2 inhibition as a concept for killing acute myeloid leukemia cells that are resistant to ALDH1 inhibitors: the example of NPM1 mutant AML
RNA expression data suggest ALDH2 inhibition as a concept for killing acute myeloid leukemia cells that are resistant to ALDH1 inhibitors: the example of NPM1 mutant AML
medRxiv - The Preprint Server for Health Sciences
Gene-diet interaction analysis in UK Biobank identified genetic loci that modify the association between fish oil supplementation and the incidence of dementia
Gene-diet interaction analysis in UK Biobank identified genetic loci that modify the association between fish oil supplementation and the incidence of dementia
medRxiv - The Preprint Server for Health Sciences
Genome-wide insights into the shared genetic landscape between metabolic dysfunction-associated fatty liver disease and cardiovascular diseases
Genome-wide insights into the shared genetic landscape between metabolic dysfunction-associated fatty liver disease and cardiovascular diseases
medRxiv - The Preprint Server for Health Sciences
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