The role of regulatory variation in complex traits and disease

FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Diagnostics and correction of batch effects in large‐scale proteomic studies: a tutorial

J Čuklina, CH Lee, EG Williams, T Sajic… - Molecular systems …, 2021 - embopress.org
Advancements in mass spectrometry‐based proteomics have enabled experiments
encompassing hundreds of samples. While these large sample sets deliver much‐needed …

Missing data and technical variability in single-cell RNA-sequencing experiments

SC Hicks, FW Townes, M Teng, RA Irizarry - Biostatistics, 2018 - academic.oup.com
Until recently, high-throughput gene expression technology, such as RNA-Sequencing
(RNA-seq) required hundreds of thousands of cells to produce reliable measurements …

Mass spectrometry‐based high‐throughput proteomics and its role in biomedical studies and systems biology

CB Messner, V Demichev, Z Wang, J Hartl… - …, 2023 - Wiley Online Library
There are multiple reasons why the next generation of biological and medical studies
require increasing numbers of samples. Biological systems are dynamic, and the effect of a …

Tackling the widespread and critical impact of batch effects in high-throughput data

JT Leek, RB Scharpf, HC Bravo, D Simcha… - Nature Reviews …, 2010 - nature.com
High-throughput technologies are widely used, for example to assay genetic variants, gene
and protein expression, and epigenetic modifications. One often overlooked complication …

Svaseq: removing batch effects and other unwanted noise from sequencing data

JT Leek - Nucleic acids research, 2014 - academic.oup.com
It is now known that unwanted noise and unmodeled artifacts such as batch effects can
dramatically reduce the accuracy of statistical inference in genomic experiments. These …

Heritability and genomics of gene expression in peripheral blood

FA Wright, PF Sullivan, AI Brooks, F Zou, W Sun, K Xia… - Nature …, 2014 - nature.com
We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify
expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly …

Recommendations for the design and analysis of epigenome-wide association studies

KB Michels, AM Binder, S Dedeurwaerder… - Nature …, 2013 - nature.com
Epigenome-wide association studies (EWAS) hold promise for the detection of new
regulatory mechanisms that may be susceptible to modification by environmental and …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

Mapping complex disease traits with global gene expression

W Cookson, L Liang, G Abecasis, M Moffatt… - Nature Reviews …, 2009 - nature.com
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …