Pauline C. Ng

TL;DR: A modified version of the Celera assembler is developed to facilitate the identification and comparison of alternate alleles within this individual diploid genome, and a novel haplotype assembly strategy is used, able to span 1.5 Gb of genome sequence in segments >200 kb, providing further precision to the diploids nature of the genome.

TL;DR: This study analyzed human sequence generated by the Roche 454, Illumina GA, and the ABI SOLiD technologies for the same 260 kb in four individuals to provide important insights into systematic biases and data variability that need to be considered when utilizing NGS platforms for population targeted sequencing studies.

TL;DR: There are two approaches for assembling short shotgun sequence reads into longer contiguous genomic sequences: reference-based and de novo assembly as mentioned in this paper, where sequence reads are compared to each other, and then overlapped to build longer contiguous sequences.

TL;DR: Differences in results from two direct-toconsumer genetics-testing companies are found and nine recommendations to improve predictions are given.

TL;DR: This is the first glimpse of an individual's exome and a snapshot of the current state of personalized genomics, and presents an approach to analyze the coding variation in humans by proposing multiple bioinformatic methods to hone in on possible functional variation.