The case for junk DNA
AF Palazzo, TR Gregory - PLoS genetics, 2014 - journals.plos.org
With the advent of deep sequencing technologies and the ability to analyze whole genome
sequences and transcriptomes, there has been a growing interest in exploring putative …
sequences and transcriptomes, there has been a growing interest in exploring putative …
Global reference mapping of human transcription factor footprints
J Vierstra, J Lazar, R Sandstrom, J Halow, K Lee… - Nature, 2020 - nature.com
Combinatorial binding of transcription factors to regulatory DNA underpins gene regulation
in all organisms. Genetic variation in regulatory regions has been connected with diseases …
in all organisms. Genetic variation in regulatory regions has been connected with diseases …
Super-enhancers in the control of cell identity and disease
D Hnisz, BJ Abraham, TI Lee, A Lau, V Saint-André… - Cell, 2013 - cell.com
Super-enhancers are large clusters of transcriptional enhancers that drive expression of
genes that define cell identity. Improved understanding of the roles that super-enhancers …
genes that define cell identity. Improved understanding of the roles that super-enhancers …
[HTML][HTML] An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium - Nature, 2012 - ncbi.nlm.nih.gov
The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
The accessible chromatin landscape of the human genome
RE Thurman, E Rynes, R Humbert, J Vierstra… - Nature, 2012 - nature.com
DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned
the discovery of all classes of cis-regulatory elements including enhancers, promoters …
the discovery of all classes of cis-regulatory elements including enhancers, promoters …
A genome-wide genetic screen uncovers determinants of human pigmentation
Skin color, one of the most diverse human traits, is determined by the quantity, type, and
distribution of melanin. In this study, we leveraged the light-scattering properties of melanin …
distribution of melanin. In this study, we leveraged the light-scattering properties of melanin …
Making sense of big data in health research: towards an EU action plan
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing
and high-resolution imaging technologies are key drivers of this rapid and crucial …
and high-resolution imaging technologies are key drivers of this rapid and crucial …
Integrative annotation of variants from 1092 humans: application to cancer genomics
Introduction Plummeting sequencing costs have led to a great increase in the number of
personal genomes. Interpreting the large number of variants in them, particularly in …
personal genomes. Interpreting the large number of variants in them, particularly in …
[HTML][HTML] Developmental fate and cellular maturity encoded in human regulatory DNA landscapes
AB Stergachis, S Neph, A Reynolds, R Humbert… - Cell, 2013 - cell.com
Cellular-state information between generations of developing cells may be propagated via
regulatory regions. We report consistent patterns of gain and loss of DNase I-hypersensitive …
regulatory regions. We report consistent patterns of gain and loss of DNase I-hypersensitive …