Big data bioinformatics

CS Greene, J Tan, M Ung, JH Moore… - Journal of cellular …, 2014 - Wiley Online Library
Recent technological advances allow for high throughput profiling of biological systems in a
cost‐efficient manner. The low cost of data generation is leading us to the “big data” era. The …

[HTML][HTML] Impacts of variation in the human genome on gene regulation

RR Haraksingh, MP Snyder - Journal of molecular biology, 2013 - Elsevier
Recent advances in fast and inexpensive DNA sequencing have enabled the extensive
study of genomic and transcriptomic variation in humans. Human genomic variation is …

A cis-regulatory atlas in maize at single-cell resolution

AP Marand, Z Chen, A Gallavotti, RJ Schmitz - Cell, 2021 - cell.com
Summary cis-regulatory elements (CREs) encode the genomic blueprints of spatiotemporal
gene expression programs enabling highly specialized cell functions. Using single-cell …

Sequential regulatory activity prediction across chromosomes with convolutional neural networks

DR Kelley, YA Reshef, M Bileschi, D Belanger… - Genome …, 2018 - genome.cshlp.org
Models for predicting phenotypic outcomes from genotypes have important applications to
understanding genomic function and improving human health. Here, we develop a machine …

[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) …

Architecture of the human regulatory network derived from ENCODE data

MB Gerstein, A Kundaje, M Hariharan, SG Landt… - Nature, 2012 - nature.com
Transcription factors bind in a combinatorial fashion to specify the on-and-off states of
genes; the ensemble of these binding events forms a regulatory network, constituting the …

Single-molecule sequencing and optical mapping yields an improved genome of woodland strawberry (Fragaria vesca) with chromosome-scale contiguity

PP Edger, R VanBuren, M Colle, TJ Poorten… - …, 2018 - academic.oup.com
Background Although draft genomes are available for most agronomically important plant
species, the majority are incomplete, highly fragmented, and often riddled with assembly …

Predicting mRNA abundance directly from genomic sequence using deep convolutional neural networks

V Agarwal, J Shendure - Cell reports, 2020 - cell.com
Algorithms that accurately predict gene structure from primary sequence alone were
transformative for annotating the human genome. Can we also predict the expression levels …

Many human accelerated regions are developmental enhancers

JA Capra, GD Erwin, G McKinsey… - … of the Royal …, 2013 - royalsocietypublishing.org
The genetic changes underlying the dramatic differences in form and function between
humans and other primates are largely unknown, although it is clear that gene regulatory …

The functional consequences of variation in transcription factor binding

DA Cusanovich, B Pavlovic, JK Pritchard, Y Gilad - PLoS genetics, 2014 - journals.plos.org
One goal of human genetics is to understand how the information for precise and dynamic
gene expression programs is encoded in the genome. The interactions of transcription …