Schaffner, Stephen F.

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

The Structure of Haplotype Blocks in the Human Genome

Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 5,863

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 2,977

Genome-wide detection and characterization of positive selection in human populations

The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 2,131

Detecting recent positive selection in the human genome from haplotype structure

Sabeti, P. C., Reich, D. E., Higgins, J. M., Levine, H. Z. P., Richter, D. J., Schaffner, S. F., Gabriel, S. B., Platko, J. V., Patterson, N. J., McDonald, G. J., et al. (2002) · Nature

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 2,106

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics

Peroxisome Proliferator-Activated ReceptorsGenetic Associations and Epidemiology

Cited by 1,766

High-resolution haplotype structure in the human genome

Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,717

Positive Natural Selection in the Human Lineage

Sabeti, P. C., Schaffner, S. F., Fry, B., Lohmueller, J., Varilly, P., Shamovsky, O., Palma, A., Mikkelsen, T. S., Altshuler, D., & Lander, E. S. (2006) · Science

Evolution and Genetic DynamicsForensic and Genetic Research

Cited by 1,157

Structural and Functional Analysis of the D614G SARS-CoV-2 Spike Protein Variant

Yurkovetskiy, L., Wang, X., Pascal, K. E., Tomkins-Tinch, C., Nyalile, T. P., Wang, Y., Baum, A., Diehl, W. E., Dauphin, A., Carbone, C., et al. (2020) · Cell

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

Cited by 1,025

Searching for missing heritability: Designing rare variant association studies

Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 635

Calibrating a coalescent simulation of human genome sequence variation

Schaffner, S. F., Foo, C., Gabriel, S., Reich, D., Daly, M. J., & Altshuler, D. (2005) · Genome Research

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 616

A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

Grossman, S. R., Shylakhter, I., Karlsson, E. K., Byrne, E. H., Morales, S., Frieden, G., Hostetter, E., Angelino, E., Garber, M., Zuk, O., et al. (2010) · Science

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 512

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

Tewhey, R., Kotliar, D., Park, D. S., Liu, B., Winnicki, S., Reilly, S. K., Andersen, K. G., Mikkelsen, T. S., Lander, E. S., Schaffner, S. F., et al. (2016) · Cell

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 480

Identifying Recent Adaptations in Large-Scale Genomic Data

Grossman, S. R., Andersen, K. G., Shlyakhter, I., Tabrizi, S., Winnicki, S., Yen, A., Park, D. J., Griesemer, D., Karlsson, E. K., Wong, S. H., et al. (2013) · Cell

Genetic Associations and EpidemiologyEvolution and Genetic Dynamics

Cited by 368

Genomic epidemiology reveals multiple introductions of Zika virus into the United States

Grubaugh, N. D., Ladner, J. T., Kraemer, M. U. G., Dudas, G., Tan, A. L., Gangavarapu, K., Wiley, M. R., White, S., Thézé, J., Magnani, D. M., et al. (2017) · Nature

Mosquito-borne diseases and controlViral Infections and Vectors

Cited by 353

Population genetic study of the brain-derived neurotrophic factor (BDNF) gene

Petryshen, T. L., Sabeti, P. C., Aldinger, K. A., Fry, B., Fan, J. B., Schaffner, S. F., Waggoner, S. G., Tahl, A. R., & Sklar, P. (2010) · Molecular Psychiatry

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 267

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

Tewhey, R., Kotliar, D., Park, D. S., Liu, B., Winnicki, S., Reilly, S. K., Andersen, K. G., Mikkelsen, T. S., Lander, E. S., Schaffner, S. F., et al. (2018) · Cell

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 51