Homo sapiens
Human
DNA Pioneer James Watson Credit: Photo courtesy of genome.gov (National Human Genome Research Institute)
Human Genome Sequencing at The Genome Institute
The Human Genome Project (HGP) was launched in the US in 1990 and jointly funded by the National Institutes of Health and the Department of Energy. The announcement of the completion of the draft sequence of the human genome in June, 2000, and the subsequent publication in Nature in February, 2001, marked an important milestone for the HGP. For the first time, scientists were able to view the features of our own instruction manual in relation both to one another and to the whole. For this first draft of the human genome The Genome Institute played an integral part in achieving this goal, contributing more than 20% of the draft sequence, and developing a comprehensive BAC clone map of the human genome. In addition, we have identified more than 300,000 single nucleotide polymorphisms or SNP's, as a member of the SNP Consortium.
Recently, a revised assembly of the human genome was made available to the community. This latest iteration of the human genome assembly represents a continuation of an extensive effort to identify and sequence gaps and fix errant sequence assignments. The culmination of this effort was published in the journal Nature, 2004. The Genome Institute has taken a lead role in the characterization of human chromosomes 2, 4, 7 and Y with subsequent publications for all.
A recent extension to human whole genome characterization has been the HapMap project, which would not have been possible without the available template, the human genome sequence. Additionally, medical sequencing and structural variation studies of the human genome are underway or being planned. These projects promise to provide essential information regarding some specific regions of the human genome associated with disease pathogenesis or susceptibility, and again demonstrate the prudence of investing in the sequencing of the human genome.
Contacts
| Name | Affiliation |
|---|---|
| Wes Warren | The Genome Institute, Washington University School of Medicine |
Sequences & Maps
Maps
| Name | Date | Type | Description |
| Homo sapiens | Mar 06, 2006 | Physical | FPC |
Related Links
Sequence Data
Genome Browser
Others
Publications
Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen HC, Agarwala…
Modernizing reference genome assemblies.
PLoS Biol. 2011 Jul;9(7):e1001091. Epub 2011 Jul 5. PubMed | View Abstract
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul…
A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
Cell. 2010 Nov 24;143(5):837-47. PubMed | View Abstract
The 1000 Genomes Project Consortium
A map of human genome variation from population-scale sequencing
Nature. 2010 Oct 28;467(7319):1050-1. PubMed | View Abstract
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague…
Mapping and sequencing of structural variation from eight human genomes.
Nature. 2008 May 1;453(7191):56-64. PubMed | View Abstract
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne…
Genome-wide detection and characterization of positive selection in human populations.
Nature. 2007 Oct 18;449(7164):913-8. PubMed | View Abstract
International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA,…
A second generation human haplotype map of over 3.1 million SNPs.
Nature. 2007 Oct 18;449(7164):851-61. PubMed | View Abstract
ENCODE Project Consortium.
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
Nature. 2007 Jun 14;447(7146):799-816. PubMed | View Abstract
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman…
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Nature. 2005 Apr 7;434(7034):724-31. PubMed | View Abstract
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell…
The DNA sequence of the human X chromosome.
Nature. 2005 Mar 17;434(7031):325-37. PubMed | View Abstract
Ding L, Sabo A, Berkowicz N, Meyer RR, Shotland Y, Johnson MR, Pepin KH, Wilson…
EAnnot: a genome annotation tool using experimental evidence.
Genome Res. 2004 Dec;14(12):2503-9. PubMed | View Abstract
A list of authors and their affiliations appears in the Supplementary Information
Finishing the euchromatic sequence of the human genome
Nature. 2004 Oct 21;431(7011):931-45. PubMed | View Abstract
Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link…
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Blood. 2004 Jul 29 [Epub ahead of print] PubMed | View Abstract
Cras-Meneur C, Inoue H, Zhou Y, Ohsugi M, Bernal-Mizrachi E, Pape D, Clifton SW, Permutt…
An expression profile of human pancreatic islet mRNAs by Serial Analysis of Gene Expression (SAGE).
Diabetologia. 2004 Feb;47(2):284-99. Epub 2004 Jan 13. PubMed | View Abstract
Ley TJ, Minx PJ, Walter MJ, Ries RE, Sun H, McLellan M, DiPersio JF, Link…
A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.
Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14275-80. Epub 2003 Nov 12. PubMed | View Abstract
Huang X, Wang J, Aluru S, Yang SP, Hillier L.
PCAP: a whole-genome assembly program.
Genome Res. 2003 Sep;13(9):2164-70. PubMed | View Abstract
Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Page…
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.
Nature. 2003 Jun 19;423(6942):873-6. PubMed | View Abstract
Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas…
The DNA sequence of human chromosome 7.
Nature. 2003 Jul 10;424(6945):157-64. PubMed | View Abstract
Kaestner KH, Lee CS, Scearce LM, Brestelli JE, Arsenlis A, Le PP, Lantz KA, Crabtree…
Transcriptional program of the endocrine pancreas in mice and humans.
Diabetes. 2003 Jul;52(7):1604-10. PubMed | View Abstract
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova…
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Nature. 2003 Jun 19;423(6942):825-37. PubMed | View Abstract
Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M,…
The DNA sequence and analysis of human chromosome 14.
Nature. 2003 Feb 6;421(6923):601-7. Epub 2003 Jan 01. PubMed | View Abstract
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar…
Initial sequencing and analysis of the human genome.
Nature. 2001 Feb 15;409(6822):860-921. PubMed | View Abstract
McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, Sekhon M, Wylie…
A physical map of the human genome.
Nature. 2001 Feb 15;409(6822):934-41. PubMed | View Abstract
Waterston R, Sulston JE.
The Human Genome Project: reaching the finish line.
Science. 1998 Oct 2;282(5386):53-4. PubMed | View Abstract
Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque…
Generation and analysis of 280,000 human expressed sequence tags.
Genome Res. 1996 Sep;6(9):807-28. PubMed | View Abstract
