| [1] |
Maxam AM, Gilbert W. A new method for sequencing DNA[J]. Proceedings of the National Academy of Sciences of the United States of America, 1977, 74(2) : 560-564.
|
| [2] |
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain－terminating inhibitors[J]. Proc Natl Acad Sci U S A, 1977, 74(12): 5463-5467.
|
| [3] |
Sanger F. The terminal peptides of insulin[J]. The Biochemical journal, 1949, 45(5) : 563-574.
|
| [4] |
Huang XC, Quesada MA, Mathies RA. DNA sequencing using capillary array electrophoresis[J]. Analytical chemistry, 1992, 64(18) : 2149-2154.
|
| [5] |
Smith LM, Fung S, Hunkapiller MW, et al. The synthesis of oligonucleotides containing an aliphatic amino group at the 5' terminus: synthesis of fluorescent DNA primers for use in DNA sequence analysis[J]．Nucleic acids research, 1985, 13(7) : 2399-2412.
|
| [6] |
Morozova O, Marra MA. Applications of next－generation sequencing technologies in functional genomics[J]. Genomics, 2008, 92(5) : 255-264.
|
| [7] |
Shendure J, Porreca GJ, Reppas NB, et al. Accurate multiplex polony sequencing of an evolved bacterial genome[J]. Science, 2005, 309(5741) : 1728-1732.
|
| [8] |
Shendure J, Ji H. Next－generation DNA sequencing[J]. Nature Biotechnology, 2008, 26(10) : 1135-1145.
|
| [9] |
Del Savio L, Loi M, Stupka E. Epigenetics and Future Generations[J]. Bioethics, 2015, 29(8) : 580-587.
|
| [10] |
Zannas AS, Provencal N, Binder EB. Epigenetics of Posttraumatic Stress Disorder: Current Evidence, Challenges, and Future Directions[J]. Biological Psychiatry, 2015, 78(5) : 327-335.
|
| [11] |
El Shamieh S, Visvikis－Siest S. Genetic biomarkers of hypertension and future challenges integrating epigenomics[J]. Clinica chimica acta, 2012, 414 : 259-265.
|
| [12] |
Thomas PD, Campbell MJ, Kejariwal A, et al. PANTHER: a library of protein families and subfamilies indexed by function[J]. Genome research, 2003, 13(9) : 2129-2141.
|
| [13] |
Ferrer－Costa C, Gelpl JL, Zamakola L, et al. PMUT: a web－based tool for the annotation of pathological mutations on proteins[J]. Bioinformatics, 2005, 21(14) : 3176-3178.
|
| [14] |
Stone EA, Sidow A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity[J]. Genome research, 2005, 15(7) : 978-986.
|
| [15] |
Cooper GM, Stone EA, Asimenos G, et al. Distribution and intensity of constraint in mammalian genomic sequence[J]. Genome research, 2005, 15(7) : 901-913.
|
| [16] |
Bromberg Y, Yachdav G, Rost B. SNAP predicts effect of mutations on protein function[J]. Bioinformatics, 2008, 24(20) : 2397-2398.
|
| [17] |
Reva B, Antipin Y, Sander C. Determinants of protein function revealed by combinatorial entropy optimization[J]. Genome Biology, 2007, 8(11) : R232.
|
| [18] |
Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics[J]. Nucleic acids research, 2011, 39(17) : e118.
|
| [19] |
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non－synonymous variants on protein function using the SIFT algorithm[J]. Nat Protocols, 2009, 4(7) : 1073-1081.
|
| [20] |
Calabrese R, Capriotti E, Fariselli P, et al. Functional annotations improve the predictive score of human disease－related mutations in proteins[J]. Human mutation, 2009, 30(8) : 1237-1244.
|
| [21] |
Li B, Krishnan VG, Mort ME, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions[J]. Bioinformatics, 2009, 25(21) : 2744-2750.
|
| [22] |
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations[J]. Nature Methods, 2010, 7(4) : 248-249.
|
| [23] |
Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels[J]. PLoS One, 2012, 7(10) : e46688.
|
| [24] |
Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models[J]. Human mutation, 2013, 34(1) : 57-65.
|
| [25] |
Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deep－sequencing age[J]. Nature Methods, 2014, 11(4) : 361-362.
|
| [26] |
Sunyaev SR, Eisenhaber F, Rodchenkov IV, et al. PSIC: profile extraction from sequence alignments with position－specific counts of independent observations[J]. Protein Engineering, 1999, 12(5) : 387-394.
|
| [27] |
Consortium EP. An integrated encyclopedia of DNA elements in the human genome[J]. Nature, 2012, 489(7414) : 57-74.
|
| [28] |
Portales－Casamar E, Thongjuea S, Kwon AT, et al. JASPAR 2010: the greatly expanded open－access database of transcription factor binding profiles[J]. Nucleic acids research, 2010, 38(Database issue) : D105-110.
|
| [29] |
Siepel A, Bejerano G, Pedersen JS, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes[J]. Genome research, 2005, (8) : 1034-1050.
|
| [30] |
Pollard KS, Hubisz MJ, Rosenbloom KR, et al. Detection of nonneutral substitution rates on mammalian phylogenies[J]. Genome research, 2010, 20(1) : 110-121.
|
| [31] |
International HapMap 3 Consortium, Altshuler DM, Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations[J]. Nature, 2010, 467(7311) : 52-58.
|
| [32] |
Reese MG, Eeckman FH, Kulp D, et al. Improved splice site detection in Genie[J]. Journal of computational Biology, 1997, 4(3) : 311-323.
|
| [33] |
González－Pérez A, López－Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel[J]. American journal of human genetics, 2011, 88(4) : 440-449.
|
| [34] |
Dong C, Wei P, Jian X, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies[J]. Human molecular genetics, 2015, 24(8) : 2125-2137.
|
| [35] |
Frousios K, Iliopoulos CS, Schlitt T, et al. Predicting the functional consequences of non－synonymous DNA sequence variants－evaluation of bioinformatics tools and development of a consensus strategy[J]. Genomics, 2013, 102(4) : 223-228.
|
| [36] |
Kircher M, Witten DM, Jain P, et al. A general framework for estimating the relative pathogenicity of human genetic variants[J]. Nature genetics, 2014, 46(3) : 310-315.
|
| [37] |
Knecht C, Mort M, Junge O, et al. IMHOTEP－a composite score integrating popular tools for predicting the functional consequences of non－synonymous sequence variants[J]. Nucleic acids research, 2017, 45(3) : e13.
|
| [38] |
Lopes MC, Joyce C, Ritchie GR, et al. A combined functional annotation score for non－synonymous variants[J]. Human heredity, 2012, 73(1) : 47-51.
|
| [39] |
Zhang MZ, Lv HB, Huang C, et al. Targeted exome sequencing identified a novel GJA3 gene missense mutation causes autosomal dominant congenital cataract in a large Chinese family[J]. International journal of clinical and experimental medicine, 2017, 10(3) : 5143-5151.
|
| [40] |
Fujinami K, Kameya S, KikuchiS, et al. Novel RP1L1 Variants and Genotype－Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy[J]. Investigative ophthalmology & Visual Science, 2016, 57(11) : 4837-4846.
|