Sean Humphray

TL;DR: It is established that 6%–8% of CGIs are methylated in genomic DNA of human blood, brain, muscle, and spleen, and CGIs showing tissue-specific methylation were overrepresented at numerous genetic loci that are essential for development, including HOX and PAX family members.

TL;DR: Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block, and detects recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

TL;DR: The pilot phase of the 1000 Genomes Project is presented, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms, and the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants are described.

TL;DR: A method that uses whole-genome sequencing (WGS) to achieve a differential diagnosis of genetic disorders in 50 hours rather than the 4 to 6 weeks is described and is intended to be a prototype for use in neonatal intensive care units.

TL;DR: The genome sequence of the oomycete Hyaloperonospora arabidopsidis is reported, an obligate biotroph and natural pathogen of Arabidopsis thaliana, which exhibits dramatic reductions in genes encoding RXLR effectors, proteins associated with zoospore formation and motility, and enzymes for assimilation of inorganic nitrogen and sulfur.