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Updated: Jun 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Characterizing natural variation using next-generation sequencing technologies
Yoav Gilad1, Jonathan K Pritchard, Kevin Thornton
1Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. gilad@uchicago.edu
Abstract:
Progress in evolutionary genomics is tightly coupled with the development of new technologies to collect high-throughput data. The availability of next-generation sequencing technologies has the potential to revolutionize genomic research and enable us to focus on a large number of outstanding questions that previously could not be addressed effectively. Indeed, we are now able to study genetic variation on a genome-wide scale, characterize gene regulatory processes at unprecedented resolution, and soon, we expect that individual laboratories might be able to rapidly sequence new genomes. However, at present, the analysis of next-generation sequencing data is challenging, in particular because most sequencing platforms provide short reads, which are difficult to align and assemble. In addition, only little is known about sources of variation that are associated with next-generation sequencing study designs. A better understanding of the sources of error and bias in sequencing data is essential, especially in the context of studies of variation at dynamic quantitative traits.
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