The Share of Human Genomic DNA under Selection Estimated from Human–Mouse Genomic Alignments

  1. F. CHIAROMONTE,
  2. R.J. WEBER,
  3. K.M. ROSKIN,
  4. M. DIEKHANS,
  5. W.J. KENT, and
  6. D. HAUSSLER
  1. * Department of Statistics and Department of Health Evaluation Sciences, Pennsylvania State University, University Park, Pennsylvania 16803; Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California 95064; Howard Hughes Medical Institute, University of California, Santa Cruz, California 95064

This extract was created in the absence of an abstract.

Excerpt

Draft sequences covering most euchromatic parts haverecently become available for two mammalian genomes,human (Lander et al. 2001; Venter et al. 2001) and mouse(Waterston et al. 2002). This raises the possibility of using comparative genomics to estimate what fraction ofthe human genome evolves under purifying selection.Lacking genomes of other mammals, this comparativeexercise is still in its preliminary stages. However, arough estimate has been made that ~5% of the humangenome is in short segments that appear to be under selection based on comparison with mouse (Waterston et al.2002). Here, as a basis for future refinements, we presentthe computational strategy that led to this estimate, providing details on scoring functions, data preparation, andstatistical techniques. We also describe stability analyses,control experiments, and tests for the effects of artifactsthat were performed to establish robustness of our results,and discuss possible alternate interpretations...

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