共 231 条
[1]
Zheng J(2019)A comprehensive assessment of next-generation sequencing variants validation using a secondary technology Mol Genet Genomic Med 7 e00748-380
[2]
Zhang H(2005)Genome sequencing in microfabricated high-density picolitre reactors Nature 437 376-5467
[3]
Banerjee S(1977)DNA sequencing with chain-terminating inhibitors Proc Natl Acad Sci 74 5463-65
[4]
Li Y(2012)An integrated map of genetic variation from 1,092 human genomes Nature 491 56-755
[5]
Zhou J(2007)A second generation human haplotype map of over 3.1 million SNPs Nature 449 851-38
[6]
Yang Q(2012)Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units Sci Transl Med 4 154ra135-59
[7]
Tan X(2011)Exome sequencing as a tool for Mendelian disease gene discovery Nat Rev Genet 12 745-352
[8]
Han P(2013)The next-generation sequencing revolution and its impact on genomics Cell 155 27-724
[9]
Fu Q(2008)Accurate whole human genome sequencing using reversible terminator chemistry Nature 456 53-12
[10]
Cui X(2011)An integrated semiconductor device enabling non-optical genome sequencing Nature 475 348-251