Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3:65ra4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011;12:228.
Article
CAS
PubMed
PubMed Central
Google Scholar
Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP, Comparative Sequencing Program NISC. Applying genomic analysis to newborn screening. Mol Syndromol. 2012;3:59–67.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rabbani B, Tekin M, Mahdieh N. The promise of whole-exome sequencing in medical genetics. J Hum Genet. 2014;59:5–15.
Article
CAS
PubMed
Google Scholar
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12:745–55.
Article
CAS
PubMed
Google Scholar
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335:823–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Seok J, Warren HS, Cuenca AG, Mindrinos MN, Baker HV, Xu W, et al. Genomic responses in mouse models poorly mimic human inflammatory diseases. Proc Natl Acad Sci U S A. 2013;110:3507–12.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hay M, Thomas DW, Craighead JL, Economides C, Rosenthal J. Clinical development success rates for investigational drugs. Nature Biotechnol. 2014;32:40–51.
Article
CAS
Google Scholar
Norgren RB. Improving genome assemblies and annotations for nonhuman primates. ILAR J. 2013;54:144–53.
Article
CAS
PubMed
PubMed Central
Google Scholar
Barr CS, Newman TK, Becker ML, Parker CC, Champoux M, Lesch KP, et al. The utility of the non-human primate; model for studying gene by environment interactions in behavioral research. Genes Brain Behav. 2003;2:336–40.
Article
CAS
PubMed
Google Scholar
Hewitson L. Primate models for assisted reproductive technologies. Reproduction. 2004;128:293–9.
Article
CAS
PubMed
Google Scholar
Tachibana M, Sparman M, Sritanaudomchai H, Ma H, Clepper L, Woodward J, et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature. 2009;461:367–72.
Article
CAS
PubMed
PubMed Central
Google Scholar
Messaoudi I, Estep R, Robinson B, Wong SW. Nonhuman primate models of human immunology. Antioxid Redox Signal. 2011;14:261–73.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vallender EJ, Miller GM. Nonhuman primate models in the genomic era: a paradigm shift. ILAR J. 2013;54:154–65.
Article
CAS
PubMed
PubMed Central
Google Scholar
Palermo RE, Tisoncik-Go J, Korth MJ, Katze MG. Old world monkeys and new Age science: the evolution of nonhuman primate systems virology. ILAR J. 2013;54:166–80.
Article
CAS
PubMed
PubMed Central
Google Scholar
Phillips KA, Bales KL, Capitanio JP, Conley A, Czoty PW, ‘t Hart BA, et al. Why primate models matter. Am J Primatol. 2014;76:801–27.
Article
PubMed
PubMed Central
Google Scholar
Yang SH, Cheng PH, Banta H, Piotrowska-Nitsche K, Yang JJ, Cheng EC, et al. Towards a transgenic model of Huntington’s disease in a non-human primate. Nature. 2008;453:921–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chan AW, Jiang J, Chen Y, Li C, Prucha MS, Hu Y, et al. Progressive cognitive deficit, motor impairment and striatal pathology in a transgenic huntington disease monkey model from infancy to adulthood. PLoS One. 2015;10:e0122335.
Article
PubMed
PubMed Central
Google Scholar
Niu Y, Shen B, Cui Y, Chen Y, Wang J, Wang L, et al. Generation of gene-modified cynomolgus monkey via Cas9/RNA-mediated gene targeting in one-cell embryos. Cell. 2014;156:836–43.
Article
CAS
PubMed
Google Scholar
Morton NE, Crow JF, Muller HJ. An estimate of the mutational damage in man from data on consanguineous marriages. Proc Natl Acad Sci U S A. 1956;42:855–63.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yuan Q, Zhou Z, Lindell SG, Higley JD, Ferguson B, Thompson RC, et al. The rhesus macaque is three times as diverse but more closely equivalent in damaging coding variation as compared to the human. BMC Genet. 2012;13:52.
Article
CAS
PubMed
PubMed Central
Google Scholar
George RD, McVicker G, Diederich R, Ng SB, MacKenzie AP, Swanson WJ, et al. Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection. Genome Res. 2011;21:1686–94.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vallender EJ. Expanding whole exome resequencing into non-human primates. Genome Biol. 2011;12:R87.
Article
PubMed
PubMed Central
Google Scholar
Zhang X, Goodsell J, Norgren RB. Limitations of the rhesus macaque draft genome assembly and annotation. BMC Genomics. 2012;13:206.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zimin AV, Cornish AS, Maudhoo MD, Gibbs RM, Zhang X, Pandey S, et al. A new rhesus macaque assembly and annotation for next-generation sequencing analyses. Biol Direct. 2014;9:20.
Article
PubMed
PubMed Central
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
Article
CAS
PubMed
PubMed Central
Google Scholar
Forums GATK. Broad Institute. 2015. http://gatkforums.broadinstitute.org/discussion/2806/howto-apply-hard-filters-to-a-call-set. Accessed 8 August 2015.
Google Scholar
Cingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6:80–92.
Article
CAS
Google Scholar
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), Online Mendelian Inheritance in Man, OMIM®. 2014. World Wide Web URL: http://omim.org/.
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nature Biotech. 2011;29:24–6.
Article
CAS
Google Scholar
Rozen S, Skaletsky HJ. 1998. Primer3. Code available at http://bioinfo.ut.ee/primer3/.
Ellman GL, Courtney KD, Andres Jr V, Feather-Stone RM. A new and rapid colorimetric determination of acetylcholinesterase activity. Biochem Pharmacol. 1961;7:88–95.
Article
CAS
PubMed
Google Scholar
Sandler NG, Bosinger S, Estes J, Zhu R, Tharp G, Boritz E, et al. Type I IFN responses in rhesus macaques prevent SIV transmission and slow disease progression. Nature. 2014;511:601–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, et al. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nature Genet. 2002;30:181–4.
Article
CAS
PubMed
Google Scholar
Rennert H, Bercovich D, Hubert A, Abeliovich D, Rozovsky U, Bar-Shira A, et al. A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. Am J Hum Genet. 2002;71:981–4.
Article
PubMed
PubMed Central
Google Scholar
Lockridge O. Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. Pharm & Therap. 2015;148:34–46.
Article
CAS
Google Scholar
Broomfield CA, Maxwell DM, Solana RP, Castro CA, Finger AV, Lenz DE. Protection by butyrylcholinesterase against organophosphorus poisoning in nonhuman primates. J Pharmacol Exp Ther. 1991;259:633–8.
CAS
PubMed
Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fawcett GL, Raveendran M, Deiros DR, Chen D, Yu F, Harris RA, et al. Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). BMC Genomics. 2011;12:311.
Article
CAS
PubMed
PubMed Central
Google Scholar