A Caucasian human genome was sequenced by Helicos single molecule sequencer

Single-molecule sequencing of an individual human genome

SRA009216

Dmitry Pushkarev^1,2, Norma F Neff^1,2 & Stephen R Quake¹

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Billions of 24- to 70-bp reads (32 bp average)
90% of the National Center for Biotechnology Information (NCBI) reference genome.
28 average coverage
by one sequencing instrument by a single operator with four data collection runs. 
Single-molecule sequencing enabled analysis of human genomic information without the need for cloning, amplification or ligation. 
determined 2.8 million single nucleotide polymorphisms (SNPs) with a false-positive rate of less than 1% as validated by Sanger sequencing and 99.8% concordance with SNP genotyping arrays. 
identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. 


Nature Biotechnology