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 …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

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 …

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 …

[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) …

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 …

A genome-wide genetic screen uncovers determinants of human pigmentation

VK Bajpai, T Swigut, J Mohammed, S Naqvi, M Arreola… - Science, 2023 - science.org
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 …

Making sense of big data in health research: towards an EU action plan

C Auffray, R Balling, I Barroso, L Bencze, M Benson… - Genome medicine, 2016 - Springer
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing
and high-resolution imaging technologies are key drivers of this rapid and crucial …

Integrative annotation of variants from 1092 humans: application to cancer genomics

E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang… - Science, 2013 - science.org
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 …

[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 …