targeted genome-wide enrichment of functional regions有针对性的全基因组浓缩功能区域.pdfVIP

Targeted Genome-Wide Enrichment of Functional Regions 1,2 1,2 1 3 Periannan Senapathy *, Ashwini Bhasi , Jeffrey Mattox , Perundurai S. Dhandapany , Sakthivel Sadayappan4 1 Department of Human Genetics, Genome Technologies, LLC., Madison, Wisconsin, United States of America, 2 Department of Bioinformatics, International Center for Advanced Genomics and Proteomics, Chennai, India, 3 Departments of Pediatrics and Genetics and Genomic Sciences and the Child Health and Development Institute, Center for Molecular Cardiology, Mount Sinai School of Medicine, New York, New York United States of America, 4 Department of Cell and Molecular Physiology, Stritch School of Medicine, Loyola University Chicago, Maywood, Illinois, United States of America Abstract Only a small fraction of large genomes such as that of the human contains the functional regions such as the exons, promoters, and polyA sites. A platform technique for selective enrichment of functional genomic regions will enable several next-generation sequencing applications that include the discovery of causal mutations for disease and drug response. Here, we describe a powerful platform technique, termed ‘‘functional genomic fingerprinting’’ (FGF), for the multiplexed genomewide isolation and analysis of targeted regions such as the exome, promoterome, or exon splice enhancers. The technique employs a fixed part of a uniquely designed Fixed-Randomized primer, while the randomized part contains all the possible sequence permutations. The Fixed-Randomized primers bind with full sequence complementarity at multiple sites where the fixed sequence (such as the splice signals) occurs within the