Stephen Schaffner
Stephen Schaffner
Senior Computational Biologist, Broad Institute
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A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
The structure of haplotype blocks in the human genome
SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy, B Blumenstiel, ...
science 296 (5576), 2225-2229, 2002
The international HapMap project
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ...
Nature Publishing Group, 2003
A haplotype map of the human genome
JW Belmont, A Boudreau, SM Leal, P Hardenbol, S Pasternak, ...
Nature, 2005
A second generation human haplotype map of over 3.1 million SNPs
International HapMap Consortium
Nature 449 (7164), 851, 2007
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
International SNP Map Working Group Cold Spring Harbor Laboratories ...
Nature 409 (6822), 928-933, 2001
Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium
Nature 467 (7311), 52, 2010
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
D Altshuler, JN Hirschhorn, M Klannemark, CM Lindgren, MC Vohl, ...
Nature genetics 26 (1), 76-80, 2000
High-resolution haplotype structure in the human genome
MJ Daly, JD Rioux, SF Schaffner, TJ Hudson, ES Lander
Nature genetics 29 (2), 229-232, 2001
Initial sequence of the chimpanzee genome and comparison with the human genome
Chimpanzee Sequencing and Analysis Consortium Waterson Robert H. waterston ...
Nature 437 (7055), 69-87, 2005
Detecting recent positive selection in the human genome from haplotype structure
PC Sabeti, DE Reich, JM Higgins, HZP Levine, DJ Richter, SF Schaffner, ...
Nature 419 (6909), 832-837, 2002
Genome-wide detection and characterization of positive selection in human populations
PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, ...
Nature 449 (7164), 913-918, 2007
Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak
SK Gire, A Goba, KG Andersen, RSG Sealfon, DJ Park, L Kanneh, ...
science 345 (6202), 1369-1372, 2014
Positive natural selection in the human lineage
PC Sabeti, SF Schaffner, B Fry, J Lohmueller, P Varilly, O Shamovsky, ...
science 312 (5780), 1614-1620, 2006
Genetic signatures of strong recent positive selection at the lactase gene
T Bersaglieri, PC Sabeti, N Patterson, T Vanderploeg, SF Schaffner, ...
The American Journal of Human Genetics 74 (6), 1111-1120, 2004
Structural and functional analysis of the D614G SARS-CoV-2 spike protein variant
L Yurkovetskiy, X Wang, KE Pascal, C Tomkins-Tinch, TP Nyalile, Y Wang, ...
Cell 183 (3), 739-751. e8, 2020
Calibrating a coalescent simulation of human genome sequence variation
SF Schaffner, C Foo, S Gabriel, D Reich, MJ Daly, D Altshuler
Genome research 15 (11), 1576-1583, 2005
Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus
P Sklar, SB Gabriel, MG McInnis, P Bennett, YM Lim, G Tsan, S Schaffner, ...
Molecular psychiatry 7 (6), 579-593, 2002
Searching for missing heritability: designing rare variant association studies
O Zuk, SF Schaffner, K Samocha, R Do, E Hechter, S Kathiresan, MJ Daly, ...
Proceedings of the National Academy of Sciences 111 (4), E455-E464, 2014
The physics of the B factories
A Bevan, B Golob, T Mannel, S Prell, B Yabsley
Springer Nature, 2017
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