Understanding the Patterns and Consequences of Single-Nucleotide Mutations in the Human Genome Using High-Throughput Sequencing.

David J Begun, Alisha K Holloway, Kristian Stevens, LaDeana W Hillier, Yu-Ping Poh, Matthew W Hahn, Phillip M Nista, Corbin D Jones, Andrew D Kern, Colin N Dewey, Lior Pachter, Eugene Myers, Charles H Langley, None, Population Genomics: Whole-Genome Analysis of Polymorphism and Divergence in Drosophila simulans PLOS Biology. ,vol. 5, pp. 2534- 2559 ,(2007) , 10.1371/JOURNAL.PBIO.0050310

Frank J. Probst, Peter Hedera, Anthony M. Sclafani, Maria Grazia Pomponi, Giovanni Neri, Jessica Tyson, Julie A. Douglas, Elizabeth M. Petty, Donna M. Martin, Skewed X-inactivation in carriers establishes linkage in an X-linked deafness–mental retardation syndrome American Journal of Medical Genetics Part A. ,vol. 131, pp. 209- 212 ,(2004) , 10.1002/AJMG.A.30308

Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P MacKenzie, Sarah B Ng, Carl Baker, Mark J Rieder, Deborah A Nickerson, Raphael Bernier, Simon E Fisher, Jay Shendure, Evan E Eichler, Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations Nature Genetics. ,vol. 43, pp. 585- 589 ,(2011) , 10.1038/NG.835

Martin J. Lercher, Laurence D. Hurst, Can mutation or fixation biases explain the allele frequency distribution of human single nucleotide polymorphisms (SNPs) Gene. ,vol. 300, pp. 53- 58 ,(2002) , 10.1016/S0378-1119(02)01040-5

Stephan J. Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Nicholas M. DiLullo, Neelroop N. Parikshak, Jason L. Stein, Michael F. Walker, Gordon T. Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan C. Murtha, Murim Choi, John D. Overton, Robert D. Bjornson, Nicholas J. Carriero, Kyle A. Meyer, Kaya Bilguvar, Shrikant M. Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State, De novo mutations revealed by whole-exome sequencing are strongly associated with autism Nature. ,vol. 485, pp. 237- 241 ,(2012) , 10.1038/NATURE10945

Sean V Tavtigian, Amie M Deffenbaugh, Luo Yin, Thaddeus Judkins, Thomas Scholl, Paul B Samollow, Deepika de Silva, Andrey Zharkikh, Alun Thomas, Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral Journal of Medical Genetics. ,vol. 43, pp. 295- 305 ,(2005) , 10.1136/JMG.2005.033878

Nick GC Smith, Matthew T Webster, Hans Ellegren, Deterministic Mutation Rate Variation in the Human Genome Genome Research. ,vol. 12, pp. 1350- 1356 ,(2002) , 10.1101/GR.220502

R. R. Hudson, Generating samples under a Wright-Fisher neutral model of genetic variation. Bioinformatics. ,vol. 18, pp. 337- 338 ,(2002) , 10.1093/BIOINFORMATICS/18.2.337

Gregory J Porreca, Kun Zhang, Jin Billy Li, Bin Xie, Derek Austin, Sara L Vassallo, Emily M LeProust, Bill J Peck, Christopher J Emig, Fredrik Dahl, Yuan Gao, George M Church, Jay Shendure, Multiplex amplification of large sets of human exons Nature Methods. ,vol. 4, pp. 931- 936 ,(2007) , 10.1038/NMETH1110

Y. Li, C. Sidore, H. M. Kang, M. Boehnke, G. R. Abecasis, Low-coverage sequencing: Implications for design of complex trait association studies Genome Research. ,vol. 21, pp. 940- 951 ,(2011) , 10.1101/GR.117259.110