Completed RS&G Projects
Resequencing
|
Completion Date |
Project Title |
Principal Investigator |
Size (Mb)* |
|---|---|---|---|
| May 2009 | Sequencing of Known Genes for Thoracic Aortic Aneurysms and Dissection in the GenTAC Cohort | Dianna Milewicz | 16.87 |
| May 2009 | Understanding the Relationship of Transcription Factor 7-like Gene (TCF7L2) Polymorphisms and Incidence of Diabetes in an Ethnically Diverse Hypertensive Heart Disease Population | Rhonda Cooper-DeHoff | 39.4 |
| Apr 2009 | Resequencing genes that cause dilated cardiomyopathy in a large cohort of index patients with familial dilated cardiomyopathy -- II. | Ray Hershberger | 20.9 |
| Apr 2009 | Diamond Blackfan Anemia Resequencing and Gene Discovery Project | Adrianna Vlachos | 47.0 |
| Jan 2009 | Genetic sequence variation discovery at three loci (β-globin locus, BCL11A, HBS1L-MYB) associated with fetal hemoglobin levels in sickle cell disease patients | Joel Hirschhorn | 36.5 |
| Nov 2008 | Novel loci for HDL-cholesterol and triglyceride levels identified by genome-wide association study | Karen Mohlke | 39.2 |
| Sep 2008 | Resequencing analyses of loci influencing LDL cholesterol and identified through genome-wide association studies | Goncalo Abecasis | 34.9 |
| Aug 2008 | Resequencing of genetic modifiers for 22q11.2 deletion syndrome. | Bernice Morrow | 4.8 |
| Aug 2008 | Genome variation on chromosome 9 in Framingham Heart Study | Christopher O'Donnell | 68.6 |
| Apr 2008 | The Genetic Basis of Atrial Fibrillation | Dawood Darbar | 8.23 |
| Apr 2008 | Axonemal dynein heavy chain 11 (DNAH11) codes for outer dynein arm (ODA) of respiratory cilia: Testing for disease-causing mutations in primary ciliary dyskinesia (PCD). | Maimoona Banoo Zariwala | 7.54 |
| Apr 2008 | Giant Gene Titin (TTN) Involvement in Dilated Cardiomyopathy | Luisa Mestroni | 33.6 |
| Dec 2007 | A Novel Locus for Familial Thoracic Aortic Aneurysms and Dissection Mapped to 4Mb on 15q24-26 (TAAD3) | Dianna Milewicz | 2.4 |
| Oct 2007 | Genetic Association Studies of Endothelial Lipase and Zinc Finger Protein 202 in Atherosclerosis. | Hamid Razzaghi | 13.9 |
| Oct 2007 | Large scale sequencing of individuals with essential hypertension (LASSO hypertension study): Analysis of monogenic hypertension syndrome genes at the extremes to find genetic determinants of common essential hypertensive disease | Aravinda Chakravarti | 106.5 |
| Sep 2007 | Identifying genetic sequence variation contributing to extremes of blood pressure in 23 genes in adrenergic, renin-angiotensin, nitric oxide and natriuretic peptide pathways | Christopher NewtonCheh | 87.9 |
| Aug 2007 | A resequencing study of genes of the vascular endothelial growth factor (VEGF) pathway | Federico Innocenti | 26.9 |
| Aug 2007 | Molecular Basis of Diamond-Blackfan Anemia | Niklas Dahl | 0.9 |
| Jun 2007 | The role of hypertension in ADPKD progression: Determination of the causes of genetic variability. | Berenice Gitomer | |
| Nov 2006 | Resequencing genes that cause dilated cardiomyopathy in a large cohort of index patients with familial dilated cardiomyopathy. | Ray Hershberger | 31 |
| Nov 2006 | Venous Thrombosis: Genes, Risk and Management | Edwin Bovill | 39.3 |
| May 2006 | Pharmacogenomics of Arrhythmia Therapy | Dan Roden | 52.7 |
| May 2006 | SNP Diversity in Iron Metabolism Pathways | Christine McLaren | 43 |
| Apr 2006 | Pharmacogenomics of Arrhythmia Therapy | Dan Roden | 52.7 |
| Nov 2005 | Oxidation and inflammation in carotid artery disease risk and progression. | Gail Jarvik | 28.2 |
|
* Resequencing is measured in total megabases (Mb) per project, and is calculated from the number of samples sequenced x the number of basepairs sequenced per sample. |
|||
| The average resequencing project size is approximately 30 Mb. More details are found in the FAQ section. | |||
Genotyping
|
Completion Date |
Project Title |
Principal Investigator |
Size (sample # x SNPs)* |
|---|---|---|---|
| Dec 2008 | Validation of the IGSF4 Gene as a Risk Factor for Venous Thrombosis in an Independent Population | Frits Rosendaal | 9180 X 384 |
| Nov 2008 | Association Studies of Positional Candidate Genes in Early-Onset Coronary Artery Disease | Svati Shah | 2880 X 1536 |
| Oct 2008 | Genetic Variation in Selenoproteins and Risk of Rapid Decline in Lung Function | Patricia Cassano | 3003 x 384 |
| Sep 2008 | SNP Analysis of AAA1 and AAA2 Loci | S. Helena Kuivaniemi | 990 x 768 |
| Aug 2008 | Genetic Variation in the Folate Metabolic Network and Cardiovascular Disease | Patricia Cassano | 1427 x 384 |
| Jul 2008 | Pharmacogenetics and cardiovascular events: a replication study in the Cardiovascular Health STudy (CHS) with opportunities to evaluate associations with new phenotypes | Bruce Psaty | 3385 x 1536 |
| Apr 2008 | Defining the role of candidate gene variation in the quantitative phenotypes related to heart disease | Dana Crawford | 7488 x 384 |
| Nov 2007 | Genetic Factors in Invasive Pneumococcal Disease | Jairam Lingappa | 1056 x 384 |
| Jun 2007 | Genome-wide association analysis of cardiovascular risk factors in African Americans using mapping by admixture linkage disequilibrium (MALD) | Wen Hong Linda Kao | 1440 x 1536 |
| May 2007 | Multi-Marker Haplotype Analysis of Less Conventional Lipid-Relevant Genes in Multigenerational Families of African Origin | Iva Miljkovic-Gacic | 431x 384 |
| Apr 2007 | Molecular Epidemiology of MI and Stroke in Older Adults | Alex Reiner | 5377 x 768 |
| Apr 2007 | Genetic modifiers of cystic fibrosis: Sibling Study | Garry Cutting | 1440 x 1536 |
| Dec 2006 | Positional Cloning of Genes for Hypertension and Related Traits in the Amish. | Nanette Steinle | 900 X 3072 |
| Dec 2006 | NFKB pathway variation in carotid artery disease risk and progression and in inflammatory marker prediction | Gail Jarvik | 1440 X 768 |
| Dec 2006 | Positional Candidate Gene Studies of Heart and Lung Phenotypes in the Hutterites | Carole Ober | 1000 X 1536 |
| Apr 2006 | A Dense SNP Map of 17q24-25 for Visceral Adiposity: the IRAS Family Study | Stephen Rich | 1,404 x 1,516 |
| Feb 2006 | Candidate Genes in COPD: The Lung Health Study | Kathleen Barnes | 533 x 1,516 |
|
* Genotyping is measured as the number of DNA samples genotyped x the number of SNPs typed. |
|||
| The average genotyping project size is approximately 2.0 Million genotypes. More details are found in the FAQ section. | |||
Publications
| Sandra J. Hasstedt, Irene D. Bezemer, Peter W. Callas, Carla Y. Vossen, Winifred Trotman, Robert P. Hebbel, Christine Demers, Frits R. Rosendaal, and Edwin G. Bovill. Cell adhesion molecule 1(CADM1): a novel risk factor for venous thrombosis. Blood First Edition Paper, prepublished online July 30, 2009; DOI 10.1182/blood-2009-05-219485. |
| Ching-Yu Cheng, W. H. Linda Kao, Nick Patterson, Arti Tandon, Christopher A. Haiman, Tamara B. Harris, Chao Xing, Esther M. John, Christine B. Ambrosone, Frederick L. Brancati, Josef Coresh, Michael F. Press, Rulan S. Parekh, Michael J. Klag, Lucy A. Meoni, Wen-Chi Hsueh, Laura Fejerman, Ludmila Pawlikowska, Matthew L. Freedman, Lina H. Jandorf, Elisa V. Bandera, Gregory L. Ciupak, Michael A. Nalls, Ermeg L. Akylbekova, Eric S. Orwoll, Tennille S. Leak, Iva Miljkovic, Rongling Li, Giske Ursin, Leslie Bernstein, Kristin Ardlie, Herman A. Taylor, Eric Boerwinckle, Joseph M. Zmuda, Brian E. Henderson, James G. Wilson, David Reich. Admixture Mapping of 15,280 African Americans Identifies Obesity Susceptibility Loci on Chromosomes 5 and X. PLoS Genet. 2009 May 22 |
| McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N. Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study. BMC Med Genet. 2008 Jul 14;9:6 |
| Reiner AP, Wurfel MM, Lange LA, Carlson CS, Nord AS, Carty CL, Rieder MJ, Desmarais C, Jenny NS, Iribarren C, Walston JD, Williams OD, Nickerson DA, Jarvik GP. Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arterioscler Thromb Vasc Biol. 2008 Jul;28(7):1407-12. Epub 2008 May 1 |
| Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR: Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8 |
| Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, Stephens M, Nickerson DA, Krauss RM. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet. 2008 May;82(5):1193-201. Epub 2008 Apr 24 |
| Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, George AL Jr, Roden DM.: Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation. Circulation. 2008 Apr 15;117(15):1927-35. Epub 2008 Mar 31 |
| Lange LA, Reiner AP, Carty CL, Jenny NS, Cushman M, Lange EM. Common genetic variants associated with plasma fibrin D-dimer concentration in older European- and African-American adults. J Thromb Haemost. 2008 Apr;6(4):654-9. Epub 2008 Jan 17 |
| Hershberger RE, Parks S, Kushner JD, Li D, Ludwigsen S, Jakobs PM, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clinical and Translational Science 2008;1:21-26 |
Abstracts
| Zariwala M, Leigh M, Carson J, Hazucha M, Minnix S, Dell S, Ferkol T, Olivier K, Sagel S, Rosenfeld M, Burns K, Armstrong M, Lori A, Metjian H, Loges N, Olbrich H, Becker A, Schmidts M, Omran H, Knowles M and the Genetic Diseases of Mucociliary Clearance Consortium. Mutations in DNAH11 gene are a common cause of Primary Ciliary Dyskinesia (PCD) in patients with normal ciliary dynein arms. Gordon Conference, Cilia, Mucus & Mucociliary Interactions, Lucca (Barga), Italy, February 2009. |
| Edwin G. Bovill, Irene D. Bezemer, Sandra J. Hasstedt, Peter Callas, Robert P Hebbel, Frits R. Rosendaal. IGSF4: A novel candidate gene for venous thrombosis. 50th American Society of Hematology Annual Meeting and Exposition, San Francisco, CA, December 2008 |
| Ying Wang, Patrick F. McArdle, Xiaolian Shi, Coleen M. Damcott, Yen-Pei C. Chang, Braxton D. Mitchell, Alan R. Shuldiner, Nanette I.Steinle. Variation in ABCA12 is associated with blood pressure and partially accounted for the BP linkage on 2q in the Old Order Amish. Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, November 2008. Available by search at http://www.ashg.org/2008meeting/abstracts/fulltext/search_page-04.shtml |
| Miljkovic-Gacic I, Yerges LM, Gordon CL, Goodpaster BH, Kammerer CM, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, Zmuda JM A High-Density Screen of 25 Lipoprotein Genes Identifies Adiponectin as a Candidate Locus for Skeletal Muscle Fat Accumulation. Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, November 2008. Available by search at: http://www.ashg.org/2008meeting/abstracts/fulltext/ |
| Hershberger RE, Rampersaud E, Hamilton K, Khuri S, Li D, Cowan J, Morales A, Martin ER. Investigation of rare and common variants in resequencing data from 313 patients with dilated cardiomyopathy. Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, November 2008. Available by search at: http://www.ashg.org/2008meeting/abstracts/fulltext/ |
| Miljkovic-Gacic I, Li H, Yerges LM, Kammerer CM, Wang XJ, CS Nestlerode, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, RW Evans, Zmuda JM. Association of the Fatty Acid Binding Protein 4 (FABP4) Gene with Increased Fat Infiltration in Skeletal Muscle, Hyperinsulinemia and Hypertriglyceridemia in Afro-Caribbean Families. 68th American Diabetes Association Scientific Sessions, San Francisco, CA, June 2008 |
| Miljkovic-Gacic I, Wang XJ, Yerges LM, Kammerer CM, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, RW Evans, Zmuda JM. Novel Association of Hepatic Nuclear Factor 4a (HNF4a) Variants with Triglycerides in a Population of African descent: The Tobago Family Health Study. 48th Annual Conference on Cardiovascular Disease Epidemiology and Prevention, Colorado Springs, CO, March 2008 |
| McArdle PF, Wang Y, Rutherford S, O'Connell J, Pohl M, Damcott CM, Ott S, Reinhart L, Pollin TI, Chang YC, Mitchell BD, Shuldiner AR, Steinle N. Positional Cloning of Genes Influencing Blood Pressure on Chromosome 2q31-36 in the Old Order Amish. Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2007. Available by search at http://www.ashg.org/genetics/ashg07s/search_page-04.shtml |
| Miljkovic-Gacic I, XJ Wang, CM Kammerer, LH Kuller, LM Yerges, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda. Genetic Variation in Four Candidate Loci and HDL-C: Tagging-SNP Analysis in Multigenerational Families of African Ancestry. Clinical Cardiovascular Genomics Meeting and Workshop, Cold Spring Harbor, ME, October 2007 |
| McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ott S, Chang YC, Levy D, Shuldiner AR, Steinle N. Nicotinic acetylcholine receptor subunit variants on chromosome 2q are associated with systolic blood pressure in the Old Order Amish and the Framingham Heart Study. American Heart Association 61st Annual High Blood Pressure Research Conference, Tucson, AZ, September 2007 |
| Ying Wang, Patrick F. McArdle, Xiaolian Shi, Coleen M. Damcott, Yen-Pei C. Chang, Braxton D. Mitchell, Alan R. Shuldiner, Nanette I.Steinle. Variation in ABCA12 is associated with blood pressure and partially accounted for the BP linkage on 2q in the Old Order Amish. Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, November 2008. Available by search at http://www.ashg.org/2008meeting/abstracts/fulltext/search_page-04.shtml |
| Hershberger RE, Parks S, Kushner JD, Li D, Ludwigsen S, Jakobs PM, Nauman D, Burgess D, Partain J, Litt M. MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP mutations indentified in 313 patients with dilated cardiomyopathy. Circulation 2007;116:II_57 |
| Watanabe H, Darbar D, Jiramongkolchai K, Chopra S, Kucera G, Stubblefield T, Roden DM: Loss of Function Mutations of Sodium Channel Beta-1 and Beta-2 Subunits Associated with Atrial Fibrillation and ST-segment Elevation. Circulation. 2007;116:II_54. |