Craig Venter - Individual Human Genome Sequenced

Individual Human Genome Sequenced

On September 4, 2007, a team led by Sam Levy published the first complete (six-billion-letter) genome of an individual human—Venter's own DNA sequence. Some of the sequences in Venter's genome are associated with wet earwax, increased risk of antisocial behavior, Alzheimer's and cardiovascular diseases. This publication was especially interesting since it contained a diploid instead of a haploid genome and shows promise for personalized medicine via genotyping. This genome, dubbed HuRef by Levy and others, was a landmark accomplishment and as of mid-2010 is probably the highest quality personal genome sequence yet completed.

The Human Reference Genome Browser is a web application for the navigation and analysis of Venter's recently published genome. The HuRef database consists of approximately 32 million DNA reads sequenced using microfluidic Sanger sequencing, assembled into 4,528 scaffolds and 4.1 million DNA variations identified by genome analysis. These variants include single-nucleotide polymorphisms (SNPs), block substitutions, short and large indels, and structural variations like insertions, deletions, inversions and copy number changes.

The browser enables scientists to navigate the HuRef genome assembly and sequence variations, and to compare it with the NCBI human build 36 assembly in the context of the NCBI and Ensembl annotations. The browser provides a comparative view between NCBI and HuRef consensus sequences, the sequence multi-alignment of the HuRef assembly, Ensembl and dbSNP annotations, HuRef variants, and the underlying variant evidence and functional analysis. The interface also represents the haplotype blocks from which diploid genome sequence can be inferred and the relation of variants to gene annotations. The display of variants and gene annotations are linked to external public resources including dbSNP, Ensembl, Online Mendelian Inheritance in Man (OMIM) and Gene Ontology (GO).

Users can search the HuRef genome using HUGO gene names, Ensembl and dbSNP identifiers, HuRef contig or scaffold locations, or NCBI chromosome locations. Users can then easily and quickly browse any genomic region via the simple and intuitive pan and zoom controls; furthermore, data relevant to specific loci can be exported for further analysis.