Admissibility of DNA Evidence in Court

Chapter 13 offers an overview of the legal rules governing the admissibility of forensic DNA typing results in US court cases. It begins with the basic evidentiary and constitutional rules governing admissibility of DNA typing results, including the Frye and Daubert tests for reliability of expert methods, confrontation clause and hearsay limitations on offering a DNA interpretation based in part on the analysis of a nontestifying expert, and Fourth Amendment case law related to DNA results stemming from nonconsensual DNA sampling from a criminal suspect. It then explores the status of reliability challenges to various forms of DNA evidence, setting forth both areas of consensus, in which the reliability of DNA typing results will not likely be disputed, and areas of controversy. Finally, it explores the status of constitutional challenges to DNA evidence under the confrontation clause and Fourth Amendment and concludes with a view of DNA admissibility issues related to emerging issues such as phenotyping, next generation sequencing, and Rapid DNA.

Efficient Sequencing, Assembly, and Annotation of Human KIR Haplotypes

The homology, recombination, variation, and repetitive elements in the natural killer-cell immunoglobulin-like receptor (KIR) region has made full haplotype DNA interpretation impossible without physical separation of chromosomes. Here, we present a new approach using long-read sequencing to efficiently capture, sequence, and assemble diploid human KIR haplotypes. Sequences for capture probe design were derived from public full-length gene and haplotype sequences. IDT xGen® Lockdown probes were used to capture 2-8 kb of sheared DNA fragments followed by sequencing on a PacBio Sequel. The sequences were error corrected, binned, and then assembled using the Canu assembler. The assembly was evaluated on 16 individuals (8 African American and 8 Europeans) from whom ground truth was known via long-range sequencing on fosmid-isolated chromosomes. Using only 18 capture probes, the results show that the assemblies cover 97% of the GenBank reference, are 99.97% concordant, and it takes only 1.8 contigs to cover 75% of the reference. We also report the first assembly of diploid KIR haplotypes from long-read WGS, including the first sequencing of cB05∼tB01, which pairs a KIR2DS2/KIR2DS3 fusion with the tB01 region. Our targeted hybridization probe capture and sequencing approach is the first of its kind to fully sequence and phase all diploid human KIR haplotypes, and it is efficient enough for population-scale studies and clinical use.