Homo sapiens whole genome shotgun sequencing project

In 2001, two versions of the human genome were published enabling researchers a first look at humans at our most basic level. While these achievements marked a new era in science, it was clear that more analysis and more sequenced genomes were needed for a more complete understanding of human biology. And because these first published genomes were mosaics of many people’s genomes, rather than genomes of individuals, it was likely that much of the key information about each person—what particular traits or propensity for disease were coded for in their genes, was missing. In short, the era of true individualized genome medicine was not yet realized, until now.
Today, researchers at the J. Craig Venter Institute, along with collaborators from Hospital for Sick Children in Toronto, the University of California, San Diego, and the Universidad de Barcelona in Spain have published the first diploid genome of an individual—Dr. Venter, in PLoS Biology. This analysis and assembly of the 20 billion base pairs of Dr. Venter’s DNA is the first look at both sets of an individual's chromosomes (one inherited from each of his parents) and has shown a greater degree and more kinds of genetic variation with human to human variation five to seven times greater than in previous genome analysis.
This new individual genome has tantalizing vistas—more than 4.1 million genetic variants covering 12.3 million base pairs of DNA. More than 3.2 million single nucleotide polymorphisms (SNPs), 1.2 million never before seen variants and nearly a million non-SNP variants. But it’s still only the beginning. Many more individual human genomes need to be sequenced, the technology to do so needs to improve, and additional analysis of this first reference human genome will continue. Researchers at the J. Craig Venter Institute are forging ahead on all these fronts in their quest for new and better understanding of human genomics.

LOCUS ABBA01000000 255300 rc DNA linear PRI 24-SEP-2007
DEFINITION Homo sapiens whole genome shotgun sequencing project.
ACCESSION ABBA00000000
VERSION ABBA00000000.1 GI:148192284
PROJECT GenomeProject:19621
KEYWORDS WGS.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.

REFERENCE 1 (bases 1 to 255300)

AUTHOR: Canals, G.A. (oxford-uk.)

COMMENT:
The Homo sapiens whole genome shotgun (WGS) project has the project
accession ABBA00000000. This version of the project (01) has the
accession number ABBA01000000, and consists of sequences
ABBA01000001-ABBA01255300.
DNA Donor Name: J. Craig Venter Date of Birth: October 14, 1946
Sex: Male Ethnicity: Caucasian Descent: European - England
This WGS project represents a composite haploid version of the
genome where the highest scoring allele contained is represented in
the consensus sequence. The number of contigs may differ from
those in the PLoS Biol. paper (PloS Biology 2007 5: e254) because
some short sequences were found to be foreign and thus were
suppressed. Scaffolds DS486015-DS490530 represent the 4528
scaffolds that are discussed in the paper. There are fewer than
listed in the paper because 12 of the original were determined to
be foreign, so were omitted here. Scaffolds DS490531-DS490620 are
the remaining multi-component scaffolds, not in the set of 4528.
The chromosomes are records CM000462-CM000485, assembled from the
scaffolds.

FEATURES Location/Qualifiers

source 1..255300
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/sex="male"
/dev_stage="adult"

WGS ABBA01000001-ABBA01255300
WGS_SCAFLD CM000462-CM000485
WGS_SCAFLD DS486015-DS490530

adolfocanals@educ.ar