[1] |
YANG Y,MUZNY D M,REID J G,et al.Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J]. N Engl J Med,2013,369(16):1502-1511.
|
[2] |
LEE H,DEIGNAN J L,DORRANI N,et al.Clinical exome sequencing for genetic identification of rare Mendelian disorders[J]. JAMA,2014,312(18):1880-1887.
|
[3] |
DEWEY F E,GROVE M E,PAN C,et al.Clinical interpretation and implications of whole-genome sequencing[J]. JAMA,2014,311(10):1035-1045.
|
[4] |
PENG L,BIAN X W,LI D K,et al.Large-scale RNA-Seq transcriptome analysis of 4 043 cancers and 548 normal tissue controls across 12 TCGA cancer types[J]. Sci Rep,2015,5:13413.
|
[5] |
RENKEMA K Y,STOKMAN M F,GILES R H,et al.Next-generation sequencing for research and diagnostics in kidney disease[J]. Nat Rev Nephrol,2014,10(8):433-444.
|
[6] |
SANGER F,AIR G M,BARRELL B G,et al.Nucleotide sequence of bacteriophage phi X174 DNA[J]. Nature,1977,265(5596):687-695.
|
[7] |
CHAISSON M J,HUDDLESTON J,DENNIS M Y,et al.Resolving the complexity of the human genome using single-molecule sequencing[J]. Nature,2015,517(7536):608-611.
|
[8] |
KILIANSKI A,HAAS J L,CORRIVEAU E J,et al.Bacterial and viral identification and differen-tiation by amplicon sequencing on the MinION nanopore sequencer[J]. Gigascience,2015,4:12.
|
[9] |
VERCOUTERE W,WINTERS-HILT S,OLSEN H,et al.Rapid discrimination among individual DNA hairpin molecules at single-nucleotide resolution using an ion channel[J]. Nat Biotechnol,2001,19(3):248-252.
|
[10] |
THOMPSON J F,MILOS P M.The properties and applications of single-molecule DNA se-quencing[J]. Genome Biol,2011,12(2):217.
|
[11] |
DONG L,WANG W,LI A,et al.Clinical next generation sequencing for precision medicine in cancer[J]. Curr Genomics,2015,16(4):253-263.
|
[12] |
QUINN A M,HICKSON N,ADAWAY M,et al.Diagnostic mutation profiling and validation of non-small-cell lung cancer small biopsy samples using a high throughput platform[J]. J Thorac Oncol,2015,10(5):784-792.
|
[13] |
VELDORE V H,PATIL S,SATHEESH C T,et al.Genomic profiling in a homogeneous molecular subtype of non-small cell lung cancer:an effort to explore new drug targets[J]. Indian J Cancer,2015,52(2):243-248.
|
[14] |
WONG S Q,FELLOWES A,DOIG K,et al.Assessing the clinical value of targeted massively parallel sequencing in a longitudinal,prospective population-based study of cancer patients[J]. Br J Cancer,2015,112(8):1411-1420.
|
[15] |
TAN A Y,MICHAEEL A,LIU G,et al.Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing[J]. J Mol Diagn,2014,16(2):216-228.
|
[16] |
ALKORTA-ARANBURU G,SUKHANOVA M,CARMODY D,et al.Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach[J]. J Pediatr Endocrinol Metab,2016,29(5):523-531.
|
[17] |
PONINSKA J K,BILINSKA Z T,FRANASZCZYK M,et al.Next-generation sequencing for di-agnosis of thoracic aortic aneurysms and dissections:diagnostic yield,novel mutations and genotype phenotype correlations[J]. J Transl Med,2016,14(1):115.
|
[18] |
鲍芸,肖艳群,王华梁. 高通量测序技术在无创产前筛查中的临床应用及研究进展[J]. 检验医学,2016,31(6):541-545.
|
[19] |
PLÖTHNER M,FRANK M,VON DER SCHULENBURG J G. Cost analysis of whole genome sequencing in German clinical practice[J]. Eur J Health Econ,2016. [Epub ahead of print]
|
[20] |
REHM H L,BALE S J,BAYRAK-TOYDEMIR P,et al.ACMG clinical laboratory standards for next-generation sequencing[J]. Genet Med,2013,15(9):733-747.
|
[21] |
JOHNSTON J J,RUBINSTEIN W S,FACIO F M,et al.Secondary variants in individuals un-dergoing exome sequencing:screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes[J]. Am J Hum Genet,2012,91(1):97-108.
|
[22] |
MAMANOVA L,COFFEY A J,SCOTT C E,et al.Target-enrichment strategies for next-generation sequencing[J]. Nat Methods,2010,7(2):111-118.
|