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Fig. 1 | Human Genomics

Fig. 1

From: Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases

Fig. 1

Schematic representation of the study design. Genomic DNA from a human liver sample was submitted to whole genome sequencing (WGS), and the resulting variant calls were used to reconstruct a phased diploid version of the genome and from there two personal genomes (G1 and G2) by replacing the reference bases at heterozygous sites with the alternative alleles using the ALEA software [6]. Chromatin from the liver was used to perform ChIP-seq experiments, and the resulting enriched DNA sequences (purple rods) were sequenced and realigned to the two personal genomes using the ASAP software (http://www.bioinformatics.babraham.ac.uk/projects/ASAP/)

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