The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Massively Parallel CRISPR‐Based Genetic Perturbation Screening at Single‐Cell Resolution

J Cheng, G Lin, T Wang, Y Wang, W Guo… - Advanced …, 2023 - Wiley Online Library
The clustered regularly interspaced short palindromic repeats (CRISPR)‐based genetic
screening has been demonstrated as a powerful approach for unbiased functional genomics …

Discovery of target genes and pathways of blood trait loci using pooled CRISPR screens and single cell RNA sequencing

JA Morris, Z Daniloski, J Domingo, T Barry, M Ziosi… - BioRxiv, 2021 - biorxiv.org
The majority of variants associated with complex traits and common diseases identified by
genome-wide association studies (GWAS) map to noncoding regions of the genome with …

Effect of all-but-one conditional analysis for eQTL isolation in peripheral blood

M Brown, E Greenwood, B Zeng, JE Powell… - Genetics, 2023 - academic.oup.com
Expression quantitative trait locus detection has become increasingly important for
understanding how noncoding variants contribute to disease susceptibility and complex …

Screening for functional transcriptional and splicing regulatory variants with GenIE

SE Cooper, J Schwartzentruber, E Bello… - Nucleic Acids …, 2020 - academic.oup.com
Genome-wide association studies (GWAS) have identified numerous genetic loci underlying
human diseases, but a fundamental challenge remains to accurately identify the underlying …

Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics

G Gibson, JD Rioux, JH Cho… - Inflammatory Bowel …, 2025 - academic.oup.com
The past 2 decades have witnessed extraordinary advances in our understanding of the
genetic factors influencing inflammatory bowel disease (IBD), providing a foundation for the …

Pitfalls in single clone CRISPR-Cas9 mutagenesis to fine-map regulatory intervals

R Tian, Y Pan, THA Etheridge, H Deshmukh, D Gulick… - Genes, 2020 - mdpi.com
The majority of genetic variants affecting complex traits map to regulatory regions of genes,
and typically lie in credible intervals of 100 or more SNPs. Fine mapping of the causal …

Endogenous fine-mapping of functional regulatory elements in complex genetic loci

K Zhao, Y Zhou, C Wu, J Wang, H Yao, X Cheng… - bioRxiv, 2023 - biorxiv.org
The vast majority of genetic loci associated with polygenic complex traits are located in non-
coding regions of the human genome. However, many of these regions exhibit high-order …

Single‐Cell Transcriptomics and Epigenomics for CRISPR‐Mediated Perturbation Studies

S Saumyaa, R Elgendy, A Bonetti - Genome Editing in Drug …, 2022 - Wiley Online Library
Recent advances in single‐cell transcriptomics and epigenomics technologies open new
avenues to dissect cell heterogeneity in multiple biological processes and identify novel …

Profiling Genome Editing Outcomes for Biological Studies and Disease Treatment

Y Pan - 2020 - search.proquest.com
CRISPR/Cas9 systems are designed to make site-and sequence-specific alterations to the
genomes of a wide variety of organisms by targeting with user-defined guide RNAs (gRNAs) …