A Caucasian human genome was sequenced by Helicos single molecule sequencer

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. 

• Stephen Quake is the co-founder of Helicos.