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 …
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 …
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 …
role in establishing and maintaining cellular identity. The organization of accessible …
From reads to insight: a hitchhiker's guide to ATAC-seq data analysis
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 …
used in studying chromatin biology, but a comprehensive review of the analysis tools has …
Epigenetic modifications in cardiovascular aging and diseases
Aging is associated with a progressive decline in cardiovascular structure and function.
Accumulating evidence links cardiovascular aging to epigenetic alterations encompassing a …
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 …
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
Chronic lymphocytic leukaemia (CLL) is characterized by substantial clinical heterogeneity,
despite relatively few genetic alterations. To provide a basis for studying epigenome …
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 …
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
Genome-wide association studies (GWAS) have transformed our understanding of
susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained …
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 …
domains at large scale is relatively well studied, the spatial organization of regulatory …