K M Porter

TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.

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: It is shown that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome and this region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs).

TL;DR: Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

TL;DR: Unexpected additional complexity or genome imbalance was found in six of 10 patients studied and provides an argument for the more widespread adoption of microarray analysis or other high resolution genome-wide screens for chromosome imbalance and rearrangement.