A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Strategic vision for improving human health at The Forefront of Genomics

ED Green, C Gunter, LG Biesecker, V Di Francesco… - Nature, 2020 - nature.com
Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …

Chromatin accessibility and the regulatory epigenome

SL Klemm, Z Shipony, WJ Greenleaf - Nature Reviews Genetics, 2019 - nature.com
Physical access to DNA is a highly dynamic property of chromatin that plays an essential
role in establishing and maintaining cellular identity. The organization of accessible …

From reads to insight: a hitchhiker's guide to ATAC-seq data analysis

F Yan, DR Powell, DJ Curtis, NC Wong - Genome biology, 2020 - Springer
Abstract Assay of Transposase Accessible Chromatin sequencing (ATAC-seq) is widely
used in studying chromatin biology, but a comprehensive review of the analysis tools has …

Epigenetic modifications in cardiovascular aging and diseases

W Zhang, M Song, J Qu, GH Liu - Circulation research, 2018 - Am Heart Assoc
Aging is associated with a progressive decline in cardiovascular structure and function.
Accumulating evidence links cardiovascular aging to epigenetic alterations encompassing a …

Epigenome maintenance in response to DNA damage

J Dabin, A Fortuny, SE Polo - Molecular cell, 2016 - cell.com
Organism viability relies on the stable maintenance of specific chromatin landscapes,
established during development, that shape cell functions and identities by driving distinct …

Chromatin accessibility maps of chronic lymphocytic leukaemia identify subtype-specific epigenome signatures and transcription regulatory networks

AF Rendeiro, C Schmidl, JC Strefford… - Nature …, 2016 - nature.com
Chronic lymphocytic leukaemia (CLL) is characterized by substantial clinical heterogeneity,
despite relatively few genetic alterations. To provide a basis for studying epigenome …

Deciphering the emerging complexities of molecular mechanisms at GWAS loci

ME Cannon, KL Mohlke - The American Journal of Human Genetics, 2018 - cell.com
Genome-wide association studies (GWASs) have identified thousands of loci associated
with hundreds of complex diseases and traits, and progress is being made toward …

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

M Went, A Sud, A Försti, BM Halvarsson… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) have transformed our understanding of
susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained …

3D organization of regulatory elements for transcriptional regulation in Arabidopsis

L Deng, Q Zhou, J Zhou, Q Zhang, Z Jia, G Zhu… - Genome Biology, 2023 - Springer
Background Although spatial organization of compartments and topologically associating
domains at large scale is relatively well studied, the spatial organization of regulatory …