1Human Genetics Center, The University of Texas School of Public Health, Houston, TX 77025, USA 2Departments of Biomedical Informatics and Psychiatry and Vanderbilt-Ingram Cancer Center (VICC), Vanderbilt University Medical Center, Nashville, TN 37232, USA 3Department of Genetics, The University of Georgia, Life Sciences Building, Athens, GA 30602, USA 4Human Genome Sequencing Center, Baylor Co...

Next-generation sequencing (NGS), otherwise known as deep or massively parallel sequencing, refers to the technological advances in DNA sequencing instrumentation that enable the generation of hundreds of thousands to millions of sequence reads per run. Sequencing of the human genome, which was once a >10-year endeavor by the NIH at the cost of approximately $3 billion (1), can now be done rout...

Automated DNA sequencing instruments embody an elegant interplay among chemistry, engineering, software, and molecular biology and have built upon Sanger's founding discovery of dideoxynucleotide sequencing to perform once-unfathomable tasks. Combined with innovative physical mapping approaches that helped to establish long-range relationships between cloned stretches of genomic DNA, fluorescen...

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...