|
1）Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008; 452: 872-6
|
|
|
|
2）Gilissen C, Hoischen A, Brunner HG, et al. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011; 12: 228
|
|
|
|
|
3）Yamaguchi T, Hosomichi K, Narita A, et al. Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res. 2011; 26: 1655-61
|
|
|
|
|
|
4）Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009; 106: 19096-101
|
|
|
|
|
|
5）Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4: 1073-81
|
|
|
|
|
|
6）Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7: 248-9
|
|
|
|
|
|
7）Liu X, Jian X, Boerwinkle E. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011; 32: 894-9
|
|
|
|
|
|
8）Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25: 1754-60
|
|
|
|
|
|
9）Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009; 25: 2078-9
|
|
|
|
|
|
10）Mckenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research. 2010; 20: 1297-303
|
|
|
|
|
|
11）Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010; 38: e164
|
|
|
|
|
|
12）Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2009; 42: 30-5
|
|
|
|
|
|
13）Lyon GJ, Wang K. Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med. 2012; 4: 58
|
|
|
|
|
|
14）Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011; 12: 745-55
|
|
|
|
|
|
15）Boyden LM, Choi M, Choate KA, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012; 482: 98-102
|
|
|
|
|
|
16）Wilson FH, Disse-Nicodeme S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science. 2001; 293: 1107-12
|
|
|
|
|
|
17）Sanna-Cherchi S, Burgess KE, Nees SN, et al. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. Kidney Int. 2011; 80: 389-96
|
|
|
|
|
|
18）Mele C, Iatropoulos P, Donadelli R, et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med. 2011; 365: 295-306
|
|
|
|
|
|
19）Rossetti S, Hopp K, Sikkink RA, et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol. 2012; 23: 915-33
|
|
|
|
|
|
20）Otto EA, Ramaswami G, Janssen S, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011; 48: 105-16
|
|
|
|
|
|
21）Brennan EP, Morine MJ, Walsh DW, et al. Next-generation sequencing identifies TGF-β1-associated gene expression profiles in renal epithelial cells reiterated in human diabetic nephropathy. Biochim Biophys Acta. 2012; 1822: 589-99
|
|
|
|
|
|
22）Kato K. [Ethical issues of personal genome research]. Rinsho Shinkeigaku. 2011; 51: 975
|
|
|
|