J. Berglund, K. Pollard, and M. Webster, Hotspots of Biased Nucleotide Substitutions in Human Genes, PLoS Biology, vol.47, issue.1, p.26, 2009.
DOI : 10.1371/journal.pbio.1000026.st002

J. Chen, D. Cooper, N. Chuzhanova, C. Ferec, and G. Patrinos, Gene conversion: mechanisms, evolution and human disease, Nature Reviews Genetics, vol.98, issue.10, pp.762-75, 2007.
DOI : 10.1038/nrg2193

S. Choi, S. Yoon, P. Calabrese, and N. Arnheim, A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations, Proceedings of the National Academy of Sciences, vol.105, issue.29, pp.10143-10148, 2008.
DOI : 10.1073/pnas.0801267105

A. Clark, M. Hubisz, C. Bustamante, S. Williamson, and R. Nielsen, Ascertainment bias in studies of human genome-wide polymorphism, Genome Research, vol.15, issue.11, pp.1496-1502, 2005.
DOI : 10.1101/gr.4107905

D. Rienzo, A. Hudson, and R. , An evolutionary framework for common diseases: the ancestral-susceptibility model, Trends in Genetics, vol.21, issue.11, pp.596-601, 2005.
DOI : 10.1016/j.tig.2005.08.007

L. Duret and P. Arndt, The Impact of Recombination on Nucleotide Substitutions in the Human Genome, PLoS Genetics, vol.101, issue.5, p.1000071, 2008.
DOI : 10.1371/journal.pgen.1000071.s007

URL : https://hal.archives-ouvertes.fr/hal-00428172

L. Duret and N. Galtier, Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes, Annual Review of Genomics and Human Genetics, vol.10, issue.1, pp.285-311, 2009.
DOI : 10.1146/annurev-genom-082908-150001

URL : https://hal.archives-ouvertes.fr/hal-00428399

L. Duret and N. Galtier, Comment on "Human-Specific Gain of Function in a Developmental Enhancer", Science, vol.323, issue.5915, pp.714-714, 2009.
DOI : 10.1126/science.1165848

URL : https://hal.archives-ouvertes.fr/hal-00428327

K. Frazer, D. Ballinger, D. Cox, D. Hinds, L. Stuve et al., A second generation human haplotype map of over 3.1 million SNPs, Nature, vol.38, issue.7164, pp.851-861, 2007.
DOI : 10.1038/nature06258

N. Galtier and L. Duret, Adaptation or biased gene conversion? Extending the null hypothesis of molecular evolution, Trends in Genetics, vol.23, issue.6, pp.273-277, 2007.
DOI : 10.1016/j.tig.2007.03.011

URL : https://hal.archives-ouvertes.fr/halsde-00424420

N. Galtier, L. Duret, S. Glemin, and V. Ranwez, GC-biased gene conversion promotes the fixation of deleterious amino acid changes in primates, Trends in Genetics, vol.25, issue.1, pp.1-5, 2009.
DOI : 10.1016/j.tig.2008.10.011

URL : https://hal.archives-ouvertes.fr/hal-00428324

N. Galtier, G. Piganeau, D. Mouchiroud, and L. Duret, GC-content evolution in mammalian genomes: the biased gene conversion hypothesis, Genetics, vol.159, pp.907-911, 2001.
URL : https://hal.archives-ouvertes.fr/hal-00427173

B. Giardine, C. Riemer, R. Hardison, R. Burhans, L. Elnitski et al., Galaxy: A platform for interactive large-scale genome analysis, Genome Research, vol.15, issue.10, pp.1451-1455, 2005.
DOI : 10.1101/gr.4086505

R. Gibbs, J. Rogers, M. Katze, R. Bumgarner, G. Weinstock et al., Evolutionary and biomedical insights from the rhesus macaque genome, Science, vol.316, pp.222-234, 2007.

R. Hernandez, S. Williamson, and C. Bustamante, Context Dependence, Ancestral Misidentification, and Spurious Signatures of Natural Selection, Molecular Biology and Evolution, vol.24, issue.8, pp.1792-1800, 2007.
DOI : 10.1093/molbev/msm108

R. Hernandez, S. Williamson, L. Zhu, and C. Bustamante, Context-Dependent Mutation Rates May Cause Spurious Signatures of a Fixation Bias Favoring Higher GC-Content in Humans, Molecular Biology and Evolution, vol.24, issue.10, pp.2196-2202, 2007.
DOI : 10.1093/molbev/msm149

T. Hubbard, B. Aken, S. Ayling, B. Ballester, K. Beal et al., Ensembl 2009, Nucleic Acids Research, vol.37, issue.Database, pp.690-697, 2009.
DOI : 10.1093/nar/gkn828

URL : http://doi.org/10.1093/nar/gkn828

G. Kryukov, L. Pennacchio, and S. Sunyaev, Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies, The American Journal of Human Genetics, vol.80, issue.4, pp.727-739, 2007.
DOI : 10.1086/513473

K. Lohmueller, A. Indap, S. Schmidt, A. Boyko, R. Hernandez et al., Proportionally more deleterious genetic variation in European than in African populations, Nature, vol.101, issue.7181, pp.994-997, 2008.
DOI : 10.1038/nature06611

S. Myers, L. Bottolo, C. Freeman, G. Mcvean, and P. Donnelly, A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome, Science, vol.310, issue.5746, pp.321-324, 2005.
DOI : 10.1126/science.1117196

S. Myers, R. Bowden, A. Tumian, R. Bontrop, C. Freeman et al., Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination, Science, vol.327, issue.5967, pp.876-879, 2010.
DOI : 10.1126/science.1182363

S. Myers, C. Spencer, A. Auton, L. Bottolo, C. Freeman et al., The distribution and causes of meiotic recombination in the human genome, Biochemical Society Transactions, vol.34, issue.4, pp.526-530, 2006.
DOI : 10.1042/BST0340526

T. Nagylaki, Evolution of a finite population under gene conversion., Proceedings of the National Academy of Sciences, vol.80, issue.20, pp.6278-6281, 1983.
DOI : 10.1073/pnas.80.20.6278

R. Development and C. Team, R: A language and environment for statistical computing. R Foundation for Statistical Computing, 2008.

B. Rhead, D. Karolchik, R. Kuhn, A. Hinrichs, A. Zweig et al., The UCSC Genome Browser database: update 2010, Nucleic Acids Research, vol.38, issue.Database, pp.613-619, 2010.
DOI : 10.1093/nar/gkp939

S. Schmidt, A. Gerasimova, F. Kondrashov, I. Adzhubei, A. Kondrashov et al., Hypermutable Non-Synonymous Sites Are under Stronger Negative Selection, PLoS Genetics, vol.307, issue.11, p.1000281, 2008.
DOI : 10.1371/journal.pgen.1000281.t003

URL : http://doi.org/10.1371/journal.pgen.1000281

C. Spencer, P. Deloukas, S. Hunt, J. Mullikin, S. Myers et al., The Influence of Recombination on Human Genetic Diversity, PLoS Genetics, vol.132, issue.9, p.148, 2006.
DOI : 10.1371/journal.pgen.0020148.sg003

P. Stenson, M. M. Ball, E. Howells, K. Phillips, A. Thomas et al., The Human Gene Mutation Database: 2008 update, Genome Medicine, vol.1, issue.1, p.13, 2009.
DOI : 10.1186/gm13

S. Sunyaev, V. Ramensky, I. Koch, W. Lathe, A. Kondrashov et al., Prediction of deleterious human alleles, Human Molecular Genetics, vol.10, issue.6, pp.591-597, 2001.
DOI : 10.1093/hmg/10.6.591

M. Webster and N. Smith, Fixation biases affecting human SNPs, Trends in Genetics, vol.20, issue.3, pp.122-126, 2004.
DOI : 10.1016/j.tig.2004.01.005

G. At, N=3467) other (m=0, N=727) [0

G. At, N=3563) other (m=0, N=737) [0

G. At, N=3412) other (m=0, N=816) [0

S. Figure, Derived allele frequencies spectra obtained for the HapMap YRI sample, for high recombination regions (as defined by the distance to recombination hotspots) The ancestral and derived alleles were determined using a maximum likelihood method that takes into account CpG hypermutability (Duret and Arndt, 2008). m represents the mean derived allele frequency, and N is the number of SNPs in each category

A. At, N=223) other (m=0

A. Gc, 16, N=118) GC ? AT (m=0.13, N=255) other (m=0.1, N=63)

S. Figure, Derived allele frequencies spectra obtained for the Lohmueller AFR sample, for high recombination regions (as defined by the distance to recombination hotspots), 2008.

L. Duret and P. F. Arndt, The Impact of Recombination on Nucleotide Substitutions in the Human Genome, PLoS Genetics, vol.101, issue.5, p.1000071, 2008.
DOI : 10.1371/journal.pgen.1000071.s007

URL : https://hal.archives-ouvertes.fr/hal-00428172

E. Jean, M. S. Guyer, V. Wang, . Ota, J. L. Peterson et al., A second generation human haplotype map of over 3.1 million SNPs, Nature, issue.7164, pp.449-851, 2007.

K. E. Lohmueller, A. R. Indap, S. Schmidt, A. R. Boyko, R. D. Hernandez et al., Proportionally more deleterious genetic variation in European than in African populations, Nature, vol.101, issue.7181, pp.451-994, 2008.
DOI : 10.1038/nature06611