Aoife McLysaght

TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.

TL;DR: A systematic and objective analysis of the draft human genome sequence is reported to identify paralogous chromosomal regions (paralogons) formed during chordate evolution and to estimate the ages of duplicate genes.

TL;DR: Porter's accuracy, tested by rigorous 5-fold cross-validation on a large set of proteins, exceeds 79%, significantly above a copy of the state-of-the-art SSpro server, better than any system published to date.

TL;DR: Evidence is presented for the de novo origin of at least three human protein-coding genes since the divergence with chimp, the first evidence for entirely novel human-specific protein-Coding genes originating from ancestrally noncoding sequences.

TL;DR: It is shown that WGD-duplicated genes (ohnologs) have rarely experienced subsequent small-scale duplication (SSD) and are also refractory to copy number variation (CNV) in human populations and are thus likely to be sensitive to relative quantities (i.e., they are dosage-balanced) and that ohnologs have a strong association with human disease.