A new era in functional genomics screens

L Przybyla, LA Gilbert - Nature Reviews Genetics, 2022 - nature.com
The past 25 years of genomics research first revealed which genes are encoded by the
human genome and then a detailed catalogue of human genome variation associated with …

Genetic insights into the neurodevelopmental origins of schizophrenia

R Birnbaum, DR Weinberger - Nature Reviews Neuroscience, 2017 - nature.com
Schizophrenia is a severe neuropsychiatric disorder with a longstanding history of
neurobiological investigation. Although the underlying causal mechanisms remain …

A global genetic interaction network maps a wiring diagram of cellular function

M Costanzo, B VanderSluis, EN Koch, A Baryshnikova… - Science, 2016 - science.org
INTRODUCTION Genetic interactions occur when mutations in two or more genes combine
to generate an unexpected phenotype. An extreme negative or synthetic lethal genetic …

Function and information content of DNA methylation

D Schübeler - Nature, 2015 - nature.com
Cytosine methylation is a DNA modification generally associated with transcriptional
silencing. Factors that regulate methylation have been linked to human disease, yet how …

Epistasis and quantitative traits: using model organisms to study gene–gene interactions

TFC Mackay - Nature Reviews Genetics, 2014 - nature.com
The role of epistasis in the genetic architecture of quantitative traits is controversial, despite
the biological plausibility that nonlinear molecular interactions underpin the genotype …

The causes and consequences of genetic interactions (epistasis)

J Domingo, P Baeza-Centurion… - Annual review of …, 2019 - annualreviews.org
The same mutation can have different effects in different individuals. One important reason
for this is that the outcome of a mutation can depend on the genetic context in which it …

Rare and common variants: twenty arguments

G Gibson - Nature Reviews Genetics, 2012 - nature.com
Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

The Notch signalling system: recent insights into the complexity of a conserved pathway

KG Guruharsha, MW Kankel… - Nature Reviews …, 2012 - nature.com
Notch signalling links the fate of one cell to that of an immediate neighbour and
consequently controls differentiation, proliferation and apoptotic events in multiple metazoan …

Global genetic networks and the genotype-to-phenotype relationship

M Costanzo, E Kuzmin, J van Leeuwen, B Mair… - Cell, 2019 - cell.com
Genetic interactions identify combinations of genetic variants that impinge on phenotype.
With whole-genome sequence information available for thousands of individuals within a …

The genetic landscape of a cell

M Costanzo, A Baryshnikova, J Bellay, Y Kim… - science, 2010 - science.org
A genome-scale genetic interaction map was constructed by examining 5.4 million gene-
gene pairs for synthetic genetic interactions, generating quantitative genetic interaction …