Massively parallel exon capture and library-free resequencing across 16 genomes

Abstract

To the Editor: The adoption of molecular inversion probes (MIPs) to massively parallel exon capture1 has been limited by representational and allelic bias. We describe modifications enabling simultaneous amplification and accurate shotgun sequencing of 50,000 exons. We also prove the scalability and accuracy of direct sequencing of MIP amplicons, which circumvents all shotgun library construction, while resequencing 1 megabase of coding sequence across 16 human genomes with >99% HapMap concordance.