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 …

The genetic epidemiology of type 2 diabetes: opportunities for health translation

JB Meigs - Current diabetes reports, 2019 - Springer
Abstract Purpose of Review Genome-wide association studies have delineated the genetic
architecture of type 2 diabetes. While functional studies to identify target transcripts are …

Single-cell chromatin accessibility identifies pancreatic islet cell type–and state-specific regulatory programs of diabetes risk

J Chiou, C Zeng, Z Cheng, JY Han, M Schlichting… - Nature …, 2021 - nature.com
Single-nucleus assay for transposase-accessible chromatin using sequencing (snATAC-
seq) creates new opportunities to dissect cell type–specific mechanisms of complex …

[HTML][HTML] Persistent or transient human β cell dysfunction induced by metabolic stress: specific signatures and shared gene expression with type 2 diabetes

L Marselli, A Piron, M Suleiman, ML Colli, X Yi… - Cell Reports, 2020 - cell.com
Pancreatic β cell failure is key to type 2 diabetes (T2D) onset and progression. Here, we
assess whether human β cell dysfunction induced by metabolic stress is reversible, evaluate …

[HTML][HTML] Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures

V Rai, DX Quang, MR Erdos, DA Cusanovich… - Molecular …, 2020 - Elsevier
Abstract Objective Type 2 diabetes (T2D) is a complex disease characterized by pancreatic
islet dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide …

Mouse aging cell atlas analysis reveals global and cell type-specific aging signatures

MJ Zhang, AO Pisco, S Darmanis, J Zou - Elife, 2021 - elifesciences.org
Aging is associated with complex molecular and cellular processes that are poorly
understood. Here we leveraged the Tabula Muris Senis single-cell RNA-seq data set to …

The role of noncoding variants in heritable disease

JD French, SL Edwards - Trends in Genetics, 2020 - cell.com
The genetic basis of disease has largely focused on coding regions. However, it has
become clear that a large proportion of the noncoding genome is functional and harbors …

Enhancers: bridging the gap between gene control and human disease

JM Karnuta, PC Scacheri - Human molecular genetics, 2018 - academic.oup.com
Enhancers are a class of regulatory elements essential for precise spatio-temporal control of
gene expression during development and in terminally differentiated cells. This review …

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

D Shigaki, O Adato, AN Adhikari, S Dong… - Human …, 2019 - Wiley Online Library
The integrative analysis of high‐throughput reporter assays, machine learning, and profiles
of epigenomic chromatin state in a broad array of cells and tissues has the potential to …

A critical review on therapeutic approaches of CRISPR-Cas9 in diabetes mellitus

J Bora, A Dey, AR Lyngdoh, A Dhasmana… - Naunyn-Schmiedeberg's …, 2023 - Springer
Diabetes mellitus (DM) is a common metabolic disorder caused mainly by combining two
primary factors, which are (1) defects in insulin production by the pancreatic β-cells and (2) …