Title:
METHODOLOGY AND GRAPHICAL USER INTERFACE TO VISUALIZE GENOMIC INFORMATION
Document Type and Number:
WIPO Patent Application WO2004097712
Kind Code:
A3
Abstract:
A method for displaying genomic information includes displaying a first axis representing a chromosome with units of basepairs. It also includes displaying on the first axis first and second sets of gene reference marks identifying genes located on forward and reverse strands of the chromosome. One or more sets of additional reference marks are further displayed, including genetic marker reference marks and haplotype reference marks. Each set of haplotype reference marks identifies one or more haplotype blocks for a population.
Inventors:
DE LA VEGA FRANCISCO M (US)
ISAAC HADAR I (US)
ISAAC HADAR I (US)
Application Number:
PCT/US2004/012977
Publication Date:
April 28, 2005
Filing Date:
April 28, 2004
Export Citation:
Assignee:
APPLERA CORP (US)
DE LA VEGA FRANCISCO M (US)
ISAAC HADAR I (US)
DE LA VEGA FRANCISCO M (US)
ISAAC HADAR I (US)
International Classes:
G06F17/21; G16B20/20; G16B20/40; G16B45/00; (IPC1-7): G06F19/00
Foreign References:
| EP1233364A2 | 2002-08-21 |
Other References:
ZHANG JINGHUI ET AL: "HapScope: a software system for automated and visual analysis of functionally annotated haplotypes.", NUCLEIC ACIDS RESEARCH. 1 DEC 2002, vol. 30, no. 23, 1 December 2002 (2002-12-01), pages 5213 - 5221, XP002317916, ISSN: 1362-4962
KASHUK C ET AL: "viewGene: A graphical tool for polymorphism visualization and characterization", GENOME RESEARCH 2002 UNITED STATES, vol. 12, no. 2, 2002, pages 333 - 338, XP002317917, ISSN: 1088-9051
THORISSON GUDMUNDUR A ET AL: "The SNP Consortium website: Past, present and future.", NUCLEIC ACIDS RESEARCH, vol. 31, no. 1, 1 January 2003 (2003-01-01), pages 124 - 127, XP002317918, ISSN: 0305-1048
WILTSHIRE T ET AL: "Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 18 MAR 2003 UNITED STATES, vol. 100, no. 6, 18 March 2003 (2003-03-18), pages 3380 - 3385, XP002317919, ISSN: 0027-8424
DE LA VEGA FRANCISCO M ET AL: "New generation pharmacogenomic tools: A SNP linkage disequilibrium map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies.", SUPPLEMENT TO BIOTECHNIQUES, no. June, 2002, pages 48 - 54, XP002317920
STEIN L D ET AL: "The generic genome browser: A building block for a model organism system database", GENOME RESEARCH 01 OCT 2002 UNITED STATES, vol. 12, no. 10, 1 October 2002 (2002-10-01), pages 1599 - 1610, XP002317921, ISSN: 1088-9051
LEWIS S E ET AL: "Apollo: a sequence annotation editor.", GENOME BIOLOGY 2002, vol. 3, no. 12, 23 December 2002 (2002-12-23), pages 1 - 14, XP002317922, ISSN: 1465-6914
GABRIEL S B ET AL: "The structure of haplotype blocks in the human genome", SCIENCE 21 JUN 2002 UNITED STATES, vol. 296, no. 5576, 21 June 2002 (2002-06-21), pages 2225 - 2229, XP002317923, ISSN: 0036-8075
MANIATIS N ET AL: "The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 19 FEB 2002, vol. 99, no. 4, 19 February 2002 (2002-02-19), pages 2228 - 2233, XP002317924, ISSN: 0027-8424
AVI-ITZHAK H ET AL: "Knowledge-driven selection of SNP markers for genetic association studies of complex diseases.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 5, November 2003 (2003-11-01), & 53RD ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; LOS ANGELES, CA, USA; NOVEMBER 04-08, 2003, pages 438, XP002317925, ISSN: 0002-9297
KASHUK C ET AL: "viewGene: A graphical tool for polymorphism visualization and characterization", GENOME RESEARCH 2002 UNITED STATES, vol. 12, no. 2, 2002, pages 333 - 338, XP002317917, ISSN: 1088-9051
THORISSON GUDMUNDUR A ET AL: "The SNP Consortium website: Past, present and future.", NUCLEIC ACIDS RESEARCH, vol. 31, no. 1, 1 January 2003 (2003-01-01), pages 124 - 127, XP002317918, ISSN: 0305-1048
WILTSHIRE T ET AL: "Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 18 MAR 2003 UNITED STATES, vol. 100, no. 6, 18 March 2003 (2003-03-18), pages 3380 - 3385, XP002317919, ISSN: 0027-8424
DE LA VEGA FRANCISCO M ET AL: "New generation pharmacogenomic tools: A SNP linkage disequilibrium map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies.", SUPPLEMENT TO BIOTECHNIQUES, no. June, 2002, pages 48 - 54, XP002317920
STEIN L D ET AL: "The generic genome browser: A building block for a model organism system database", GENOME RESEARCH 01 OCT 2002 UNITED STATES, vol. 12, no. 10, 1 October 2002 (2002-10-01), pages 1599 - 1610, XP002317921, ISSN: 1088-9051
LEWIS S E ET AL: "Apollo: a sequence annotation editor.", GENOME BIOLOGY 2002, vol. 3, no. 12, 23 December 2002 (2002-12-23), pages 1 - 14, XP002317922, ISSN: 1465-6914
GABRIEL S B ET AL: "The structure of haplotype blocks in the human genome", SCIENCE 21 JUN 2002 UNITED STATES, vol. 296, no. 5576, 21 June 2002 (2002-06-21), pages 2225 - 2229, XP002317923, ISSN: 0036-8075
MANIATIS N ET AL: "The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 19 FEB 2002, vol. 99, no. 4, 19 February 2002 (2002-02-19), pages 2228 - 2233, XP002317924, ISSN: 0027-8424
AVI-ITZHAK H ET AL: "Knowledge-driven selection of SNP markers for genetic association studies of complex diseases.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 5, November 2003 (2003-11-01), & 53RD ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; LOS ANGELES, CA, USA; NOVEMBER 04-08, 2003, pages 438, XP002317925, ISSN: 0002-9297
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