Table 1. eGTEx study design.

Molecular assays, targeted tissues and sample number for eGTEx.

Molecular phenotypes	Primary assay(s)	Targeted tissues (Phase II)	Targeted sample number
DNA accessibility	DNase I hypersensitivity	Brain regions, Heart, Lung Muscle, Esophagus, Breast, Prostate, Skin	~1,135
Histone modifications	Chromatin immunoprecipitation sequencing (ChIP-seq)	Brain regions, Heart, Lung, Muscle	~600
DNA methylation	Whole genome bisulfite sequencing (WGBS) and capture bisulfite sequencing	Brain regions, Heart, Lung, Muscle, Thyroid	~2,000
Allele-specific expression	Microfluidic multiplex PCR followed by deep sequencing (mmPCR-seq)	All tissues	~2,000
Post-transcriptional RNA modifications	m6a methylation capture sequencing	Brain regions, Heart, Lung, Muscle	~300
Proteomic variation	Mass-spectrometry, targeted arrays for transcription factors and cell signaling proteins	Brain, Heart, Lung, Muscle, Thyroid, Colon, Liver, Prostate, Pancreas, Ovary, Testis, Breast	~1,000 (MS) ~2,500 (array)
Somatic variation	Deep Exome Sequencing, RNA-seq, SNP arrays, probe-based telomere length assay	~20–25 tissues	~800
Telomere length	Luminex-based assay for telomere repeat abundance	~20 tissues	~5,000