Obtaining genetics insights from deep learning via explainable artificial intelligence

G Novakovsky, N Dexter, MW Libbrecht… - Nature Reviews …, 2023 - nature.com
Artificial intelligence (AI) models based on deep learning now represent the state of the art
for making functional predictions in genomics research. However, the underlying basis on …

[HTML][HTML] The human transcription factors

SA Lambert, A Jolma, LF Campitelli, PK Das, Y Yin… - Cell, 2018 - cell.com
Transcription factors (TFs) recognize specific DNA sequences to control chromatin and
transcription, forming a complex system that guides expression of the genome. Despite keen …

Wilds: A benchmark of in-the-wild distribution shifts

PW Koh, S Sagawa, H Marklund… - International …, 2021 - proceedings.mlr.press
Distribution shifts—where the training distribution differs from the test distribution—can
substantially degrade the accuracy of machine learning (ML) systems deployed in the wild …

Determination and inference of eukaryotic transcription factor sequence specificity

MT Weirauch, A Yang, M Albu, AG Cote… - Cell, 2014 - cell.com
Transcription factor (TF) DNA sequence preferences direct their regulatory activity, but are
currently known for only∼ 1% of eukaryotic TFs. Broadly sampling DNA-binding domain …

Transcriptional enhancers: from properties to genome-wide predictions

D Shlyueva, G Stampfel, A Stark - Nature Reviews Genetics, 2014 - nature.com
Cellular development, morphology and function are governed by precise patterns of gene
expression. These are established by the coordinated action of genomic regulatory …

Transcription factor–DNA binding: beyond binding site motifs

S Inukai, KH Kock, ML Bulyk - Current opinion in genetics & development, 2017 - Elsevier
Sequence-specific transcription factors (TFs) regulate gene expression by binding to cis-
regulatory elements in promoter and enhancer DNA. While studies of TF–DNA binding have …

The role of enhancers in cancer

I Sur, J Taipale - Nature Reviews Cancer, 2016 - nature.com
Enhancer elements function as the logic gates of the genetic regulatory circuitry. One of their
most important functions is the integration of extracellular signals with intracellular cell fate …

The genetics of transcription factor DNA binding variation

B Deplancke, D Alpern, V Gardeux - Cell, 2016 - cell.com
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

Absence of a simple code: how transcription factors read the genome

M Slattery, T Zhou, L Yang, ACD Machado… - Trends in biochemical …, 2014 - cell.com
Transcription factors (TFs) influence cell fate by interpreting the regulatory DNA within a
genome. TFs recognize DNA in a specific manner; the mechanisms underlying this …

Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence

PJ Wittkopp, G Kalay - Nature Reviews Genetics, 2012 - nature.com
Cis-regulatory sequences, such as enhancers and promoters, control development and
physiology by regulating gene expression. Mutations that affect the function of these …