A systematic evaluation of single cell RNA-seq analysis pipelines

B Vieth, S Parekh, C Ziegenhain, W Enard… - Nature …, 2019 - nature.com
The recent rapid spread of single cell RNA sequencing (scRNA-seq) methods has created a
large variety of experimental and computational pipelines for which best practices have not …

Chromatin accessibility profiling methods

L Minnoye, GK Marinov, T Krausgruber, L Pan… - Nature Reviews …, 2021 - nature.com
Chromatin accessibility, or the physical access to chromatinized DNA, is a widely studied
characteristic of the eukaryotic genome. As active regulatory DNA elements are generally …

Molecular profiling for precision cancer therapies

ER Malone, M Oliva, PJB Sabatini, TL Stockley… - Genome medicine, 2020 - Springer
The number of druggable tumor-specific molecular aberrations has grown substantially in
the past decade, with a significant survival benefit obtained from biomarker matching …

[HTML][HTML] Methods for ChIP-seq analysis: A practical workflow and advanced applications

R Nakato, T Sakata - Methods, 2021 - Elsevier
Chromatin immunoprecipitation followed by sequencing (ChIP-seq) is a central method in
epigenomic research. Genome-wide analysis of histone modifications, such as enhancer …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA

S Guo, D Diep, N Plongthongkum, HL Fung, K Zhang… - Nature …, 2017 - nature.com
Adjacent CpG sites in mammalian genomes can be co-methylated owing to the processivity
of methyltransferases or demethylases, yet discordant methylation patterns have also been …

Non-coding RNAs in cardiovascular diseases: diagnostic and therapeutic perspectives

W Poller, S Dimmeler, S Heymans, T Zeller… - European heart …, 2018 - academic.oup.com
Recent research has demonstrated that the non-coding genome plays a key role in genetic
programming and gene regulation during development as well as in health and …

Quantifying genetic effects on disease mediated by assayed gene expression levels

DW Yao, LJ O'connor, AL Price, A Gusev - Nature genetics, 2020 - nature.com
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …

Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature Structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain

M Fujita, Z Gao, L Zeng, C McCabe, CC White, B Ng… - Nature Genetics, 2024 - nature.com
The relationship between genetic variation and gene expression in brain cell types and
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …