Single Nucleotide Polymorphisms Meeting

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Executive Summary of the SNP Meeting

Pooks Hill Marriott
Bethesda, Md.

June 7-8, 1999
Full Summary

The single nucleotide polymorphisms (SNP) meeting brought together all the principal investigaors (PI) from the SNP RFA as well as the principals from the SNP Consortium (TSC), to discuss issues related to coordination, SNP quality, resources, and databases. The conclusion of the meeting was that for SNPs to be most useful, several questions need to be addressed and several additional resources need to be provided.

Major scientific questions related to genetic variation that need to be addressed
Assessment of currently available information and resources
New resources needed
SNP quality
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Summary of the SNP Meeting

Pooks Hill Marriott
Bethesda, MD

June 7-8, 1999

The SNP meeting brought together all the PIs from the SNP RFA as well as the principals from the SNP Consortium (TSC), to discuss issues related to coordination, SNP quality, resources and databases. The conclusion of the meeting was that for SNPs to be most useful, several questions need to be addressed and several additional resources need to be provided.

Major scientific questions related to genetic variation that need to be addressed
The SNPs Needed for Various Questions
Question Number Needed Least Frequency of Minor Allele
Linkage 2-3K 10-20%
Loss of heterozygosity 2-10K?? 30-40%
Whole-genome association
Large number of founders 300-500K ?? 60-200K ??
Small number of founders    
Finding disease-associated alleles Focus on genes All frequencies
Population studies    

Current SNP discovery

Issues that need to be addressed to use SNPs and understand their patterns
Assessment of currently available information and resources
New resources needed
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SNP Meeting

June 7-8, 1999
Pooks Hill Marriott
Bethesda, MD

PARTICIPANTS

(Listed in alphabetical order from left to right)

Aravinda Chakravarti
Case Western Reserve University
10900 Euclid Avenue
Cleveland, OH 44106-4955

David Cox
Department of Genetics
School of Medicine
Stanford University
Stanford, CA 94305

Daniel Geraghty
Fred Hutchinson Cancer Research Center
1100 Fairview Avenue N. D2-100
PO Box 19024
Seattle, WA 98109-1024

Pui-Yan Kwok
Washington University Scbool of Medicine
660 S. Euclid Avenue
Campus Box 8123
St. Louis, MO 63110

Charles Langley
Center for Population Biology and Section of Evolution and Ecology
University of California, Davis
One Shields Avenue
2320 Storer Hall
Davis, CA 95616

Jean McEwen
Boston College Law School
885 Centre Street
Newton, MA 02459

Richard Myers
Department of Genetics
Stanford University School of Medicine
300 Pasteur Drive
Stanford, CA 94305-5120

John Nolan
Los Alamos National Laboratory
University of California
PO Box 1663
Los Alamos, NM 87545

Maynard Olson
Genome Center
University of Washington
225 Fluke Hall on Mason Rd
Seattle, WA 98195

Barbara Skene
The Wellcome Trust
183 Euston Rd.
London NW12BE, United Kingdom
01716118690

Carl Ton
University of Washington School of Medicine
225 Fluke Hall on Mason Rd.
Seattle, WA 98195

James Weber
Marshfield Medical Research Foundation
1000 North Oak Avenue
Marshfield, WI 54449
Mark Chee
Illumina, Inc.
9390 Towne Centre Drive, Suite 200
San Diego, CA 92121

Evan Eichler
Case Western Reserve University
10900 Euclid Avenue
Cleveland, OH 44106-3029

Arthur Holden
TSC
8770 West Bryn Mawr Avenue
Suite 1300
Chicago, IL 60631

Eric Lander
Whitehead Institute
Center for Genome Research
One Kendall Square - Bldg. 300
Cambridge, MA 02139

Robert Lipshutz
Affymetrix, Inc.
3380 Central Expressway
Santa Clara, CA 95051

John McPherson
Washington University School of Medicine
4444 Forest Park Blvd.
St. Louis, MO 63108

Deborah Nickerson
Department of Molecular Biotechnology
University of Washington
Box 357730
Seattle, WA 98195-7730

Peter Oefner
Stanford Genome Center
855 California Avenue
Palo Alto, CA 94304

Michael Silber
Pfizer, Inc.
Central Research Division
Easter Point Rd.
Groton, CT 06340

Lincoln Stein
Cold Spring Harbor Laboratory
One Bungtown Road
Cold Spring Harbor, NY 11724

David Wang
Bristol-Myers Squibb
Pharmaceutical Research Institute
PO Box 5400
Princeton, NJ 08543-5400

Robert Weiss
Department of Human Genetics
University of Utah
20 S. 2030 E, Room 308
Salt Lake City, UT 84112-9454

NIH Attendees:

Douglas Bell
NIH/NIEHS
111 Alexander Drive
Box 12233
Research Triangle Park, NC 27709

Lisa Brooks
NIH/NHGRI
Bldg. 38A, Room 614
38 Library Drive
Bethesda, MD 20892

Jean Cahill
NIH/NHGRI
Bldg. 38A, Room 613
38 Library Drive
Bethesda, MD 20892

Francis Collins
Director
NIH/NHGRI
Bldg. 31, Room 4B09
31 Center Drive
Bethesda, MD 20892

Camilla Day
NIH/CSR
6701 Rockledge Drive
Bethesda, MD 20892

Elise Feingold
NIH/NHGRI
Bldg. 38A, Room 614
38 Library Drive
Bethesda, MD 20892

Maria Giovanni
NIH/NEI
Executive Plaza South
Suite 350
6120 Executive Blvd.
Bethesda, MD 20892

Mark Guyer
NIH/NHGRI
Bldg. 38A, Room 604
38 Library Drive
Bethesda, MD 20892

Kathy Hudson
NIH/NHGRI
Bldg. 31, Room 4B09
31 Center Drive
Bethesda, MD 20892

Elke Jordan
NIH/NHGRI
Bldg. 31, Room 4B09
31 Center Drive
Bethesda, MD 20892

Rochelle Long
NIH/NIGMS
Natcher Bldg., Room 4AS49
45 Center Drive
Bethesda, MD 20892

Karen Mohlke
NIH/NHGRI
Bldg. 9, Room 1W108
9000 Rockville Pike
Bethesda, MD 20892

Susan Old
NIH/NHLBI
Two Rockledge Centre
Suite 9150
6701 Rockledge Drive
Bethesda, MD 20892

Jane Peterson
NIH/NHGRI
Bldg. 38A, Room 610
38 Library Drive
Bethesda, MD 20892

Jerry Roberts
NIH/NHGRI
Bldg. 38A, Room 609
38A Library Drive
Bethesda, MD 20892

James Selkirk
NIH/NIEHS
111 Alexander Drive
PO Box 12233
Research Triangle Park, NC 27709

Grace Shen
NIH/NCI
EPN, Room 501
6130 Executive Blvd.
Bethesda, MD 20892

Kaisa Silander
NIH/NHGRI
Bldg. 9, Room 1W108
Bethesda, MD 20892

Judy Small
NIH/NIDCR
Natcher Bldg., Room 4AN-24J
45 Center Drive
Bethesda, MD 20892

Elizabeth Thomson
NIH/NHGRI
Bldg. 38A, Room 617
38A Library Drive
Bethesda, MD 20892

Jose Velazquez
NIH/NIEHS
PO Box 12233
Research Triangle Park, NC 27709

Sally York
NIH/NHGRI
Bldg. 38A, Room 613
38 Library Drive
Bethesda, MD 20892
Joy Boyer
NIH/NHGRI
Bldg. 38A, Room 617
38 Library Drive
Bethesda, MD 20892

Ken Buetow
NIH/NCI
Bldg.9, 1N105
Bethesda, MD 20892

Peter Chines
NIH/NHGRI
Room 3As.43
45 Center Drive
Bethesda, MD 20892

Yasmin Cypel
NIH/NHGRI
Bldg. 38A, Room 614
38 Library Drive
Bethesda, MD 20892

Mike Erdos
NIH/NHGRI
49 Convent Drive
Bethesda, MD 20892

Adam Felsenfeld
NIH/NHGRI
Bldg. 38A, Room 614
38 Library Drive
Bethesda, MD 20892

Bettie Graham
NIH/NHGRI
Bldg. 38A, Room 614
38 Library Drive
Bethesda, MD 20892

Linda Hall
NIH/NHGRI
Bldg. 38A, Room 613
38 Library Drive
Bethesda, MD 20892

Karin Jegalian
NIH/NHGRI
31 Center Drive
Bldg. 31, Room 4B09
Bethesda, MD 20892

Robert Karp
NIH/NIAAA
Willco Bldg.
6000 Executive Blvd.
Suite 402
Bethesda, MD 20892

Stephen Mockrin
NIH/NHLBI
Two Rockledge Centre
6701 Rockledge Drive
Bethesda, MD 20892

Ken Nakamura
NIH/NHGRI
Bldg. 38A, Room 609
38 Library Drive
Bethesda, MD 20892

Diane Patterson
NIH/NHGRI
Bldg. 38A, Room 613
38 Library Drive
Bethesda, MD 20892

Rudy Pozzatti
NIH/NHGRI
Bldg. 38A, Room 609
38 Library Drive
Bethesda, MD 20892

Jeffery Schloss
NIH/NHGRI
Bldg. 38A, Room 610
38 Library Drive
Bethesda, MD 20892

Vicki Seyfert
NIH/NIAID
Solar Bldg., 4A21
Bethesda, MD 20892

Steve Sherry
NIH/NCBI
Bldg. 38A, Room 8N805
38 Library Drive
Bethesda, MD 20892

Karl Sirotkin
NIH/NCBI
Bldg. 38A, Room 8S810
38 Library Drive
Bethesda, MD 20892

Rochelle Small
NIH/NIDCD
Executive Plaza South Bldg.
6120 Executive Blvd.
Suite 400-C
Bethesda, MD 20892

Marjorie Tingle
NIH/NCRR
One Rockledge Centre
Room 6154
6705 Rockledge Drive
Bethesda, MD 20892

Cathy Yarbrough
NIH/NHGRI
Bldg. 31, Room 4B09
31 Center Drive
Bethesda, MD 20892

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Last Reviewed: May 2006