The technological landscape and applications of single-cell multi-omics
Single-cell multi-omics technologies and methods characterize cell states and activities by
simultaneously integrating various single-modality omics methods that profile the …
simultaneously integrating various single-modality omics methods that profile the …
Variant interpretation using population databases: Lessons from gnomAD
S Gudmundsson, M Singer‐Berk, NA Watts… - Human …, 2022 - Wiley Online Library
Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …
Their use guides the identification of pathogenic variants amidst the sea of benign variation …
Towards a general-purpose foundation model for computational pathology
Quantitative evaluation of tissue images is crucial for computational pathology (CPath) tasks,
requiring the objective characterization of histopathological entities from whole-slide images …
requiring the objective characterization of histopathological entities from whole-slide images …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Hypertension affects more than one billion people worldwide. Here we identify 113 novel
loci, reporting a total of 2,103 independent genetic signals (P< 5× 10− 8) from the largest …
loci, reporting a total of 2,103 independent genetic signals (P< 5× 10− 8) from the largest …
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing …
LC Walker, M de la Hoya, GAR Wiggins, A Lindy… - The American Journal of …, 2023 - cell.com
Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy
Immune-responsive gene 1 (IRG1) encodes aconitate decarboxylase (ACOD1) that
catalyzes the production of itaconic acids (ITAs). The anti-inflammatory function of IRG1/ITA …
catalyzes the production of itaconic acids (ITAs). The anti-inflammatory function of IRG1/ITA …