RT Journal Article SR Electronic T1 Human CODIS STR Loci Profiling from HTS Data JF bioRxiv FD Cold Spring Harbor Laboratory SP 047225 DO 10.1101/047225 A1 Darrell O. Ricke A1 Martha Petrovick A1 Johanna Bobrow A1 Tara Boettcher A1 Christina Zook A1 James Harper A1 Edward Wack A1 Eric Schwoebel YR 2016 UL http://biorxiv.org/content/early/2016/04/06/047225.abstract AB Human DNA identification is currently performed by amplifying a small, defined set of short tandem repeat (STR) loci (e.g. CODIS) and analyzing the size of the alleles present at those loci by capillary electrophoresis. High-throughput DNA sequencing (HTS) could enable the simultaneous analysis of many additional STR and single nucleotide polymorphism (SNP) loci, improving accuracy and discrimination. However, it is necessary to demonstrate that HTS can generate accurate data on the CODIS loci to enable backwards compatibility with the FBI NDIS database. Sequencing can also detect novel polymorphisms within alleles that migrate with identical sizes by capillary electrophoresis, improving allele discrimination, and enhancing human identification analysis. All CODIS alleles from an individual can be amplified in a single, multiplex PCR reaction, and combined with additional barcoded samples prior to sequencing. A computational tool for allele identification from multiplexed sequence data has been developed. With longer-read-length platforms, 99.6% allele calling accuracy can be achieved. In the course of STR sequencing protocol development, 12 novel allele sequences have been identified for multiple loci. Sequencing STR loci combined with SNPs will enable new forensic applications.