Beyond GWASs: illuminating the dark road from association to function
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …
variation contributing to normal and pathological traits and clinical drug responses, but …
Enhancer variants: evaluating functions in common disease
Gene enhancer elements are noncoding segments of DNA that play a central role in
regulating transcriptional programs that control development, cell identity, and evolutionary …
regulating transcriptional programs that control development, cell identity, and evolutionary …
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated
with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage …
with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage …
Comprehensive functional annotation of 77 prostate cancer risk loci
Genome-wide association studies (GWAS) have revolutionized the field of cancer genetics,
but the causal links between increased genetic risk and onset/progression of disease …
but the causal links between increased genetic risk and onset/progression of disease …
CRISPR-mediated deletion of prostate cancer risk-associated CTCF loop anchors identifies repressive chromatin loops
Background Recent genome-wide association studies (GWAS) have identified more than
100 loci associated with increased risk of prostate cancer, most of which are in non-coding …
100 loci associated with increased risk of prostate cancer, most of which are in non-coding …
Using 3D epigenomic maps of primary olfactory neuronal cells from living individuals to understand gene regulation
As part of PsychENCODE, we developed a three-dimensional (3D) epigenomic map of
primary cultured neuronal cells derived from olfactory neuroepithelium (CNON). We mapped …
primary cultured neuronal cells derived from olfactory neuroepithelium (CNON). We mapped …
Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies
Recent large-scale genetic approaches such as genome-wide association studies have
allowed the identification of common genetic variations that contribute to risk architectures of …
allowed the identification of common genetic variations that contribute to risk architectures of …
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary
epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be …
epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be …
LEM-3 is a midbody-tethered DNA nuclease that resolves chromatin bridges during late mitosis
Y Hong, R Sonneville, B Wang, V Scheidt… - Nature …, 2018 - nature.com
Faithful chromosome segregation and genome maintenance requires the removal of all
DNA bridges that physically link chromosomes before cells divide. Using C. elegans …
DNA bridges that physically link chromosomes before cells divide. Using C. elegans …
Identification of breast cancer associated variants that modulate transcription factor binding
Genome-wide association studies (GWAS) have discovered thousands loci associated with
disease risk and quantitative traits, yet most of the variants responsible for risk remain …
disease risk and quantitative traits, yet most of the variants responsible for risk remain …