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1

A global reference for human genetic variation

Auton, Adam, Abecasis, Gonçalo R., Altshuler, David M., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Donnelly, Peter, Eichler, Evan E., Flicek,

Journal:

Year:

2015

Language:

english

File:

PDF, 9.50 MB

english, 2015

2

A map of human genome variation from population-scale sequencing

Durbin, Richard M., Altshuler, David L., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly,

Journal:

Year:

2010

Language:

english

File:

PDF, 1.54 MB

english, 2010

3

Mapping complex disease traits with global gene expression

Cookson, William, Liang, Liming, Abecasis, Gonçalo, Moffatt, Miriam, Lathrop, Mark

Journal:

Nature Reviews Genetics

Year:

2009

Language:

english

File:

PDF, 433 KB

english, 2009

4

Enhanced genetic maps from family-based disease studies: population-specific comparisons

Chunsheng He, Daniel E Weeks, Steven Buyske, Goncalo R Abecasis, William C Stewart, Tara C Matise, The Enhanced Map Consortium

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 305 KB

english, 2011

5

Replicating genotype–phenotype associations

Chanock, Stephen J., Manolio, Teri, Boehnke, Michael, Boerwinkle, Eric, Hunter, David J., Thomas, Gilles, Hirschhorn, Joel N., Abecasis, Goncalo, Altshuler, David, Bailey-Wilson, Joan E.

Journal:

Year:

2007

Language:

english

File:

PDF, 461 KB

english, 2007

6

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

McCarthy, Mark I., Abecasis, Gonçalo R., Cardon, Lon R., Goldstein, David B., Little, Julian, Ioannidis, John P. A., Hirschhorn, Joel N.

Journal:

Nature Reviews Genetics

Year:

2008

Language:

english

File:

PDF, 824 KB

english, 2008

7

Genome-Wide Association Scan of Trait Depression

Antonio Terracciano, Toshiko Tanaka, Angelina R. Sutin, Serena Sanna, Barbara Deiana, Sandra Lai, Manuela Uda, David Schlessinger, Gonçalo R. Abecasis, Luigi Ferrucci, Paul T. Costa Jr.

Journal:

Biological Psychiatry

Year:

2010

Language:

english

File:

PDF, 479 KB

english, 2010

8

An alternative to the search for single polymorphisms: Toward molecular personality scales for the five-factor model.

McCrae, Robert R., Scally, Matthew, Terracciano, Antonio, Abecasis, Gonçalo R., Costa, Paul T.

Journal:

Journal of Personality and Social Psychology

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

9

Reference-based phasing using the Haplotype Reference Consortium panel

Loh, Po-Ru, Danecek, Petr, Palamara, Pier Francesco, Fuchsberger, Christian, A Reshef, Yakir, K Finucane, Hilary, Schoenherr, Sebastian, Forer, Lukas, McCarthy, Shane, Abecasis, Goncalo R, Durbin, Ric

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 556 KB

english, 2016

10

Narrow-sense heritability estimation of complex traits using identity-by-descent information

Evans, Luke M., Tahmasbi, Rasool, Jones, Matt, Vrieze, Scott I., Abecasis, Gonçalo R., Das, Sayantan, Bjelland, Douglas W., de Candia, Teresa R., Yang, Jian, Goddard, Michael E., Visscher, Peter M., K

Journal:

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

11

Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database

Maria Karayiorgou, Marie Torrington, Gonçalo R. Abecasis, Herman Pretorius, Brian Robertson, Sean Kaliski, Stephen Lay, Christina Sobin, Natalie Möller, S. Laura Lundy, Maude L. Blundell, Joseph A. Go

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

12

Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known

Tasha E. Fingerlin, Gonçalo R. Abecasis, Michael Boehnke

Journal:

Genetic Epidemiology

Year:

2006

Language:

english

File:

PDF, 514 KB

english, 2006

13

An evaluation of the replicate pool method: quick estimation of genome-wide linkage peak p-values

Janis E. Wigginton, Gonçalo R. Abecasis

Journal:

Genetic Epidemiology

Year:

2006

Language:

english

File:

PDF, 293 KB

english, 2006

14

Estimating the power of variance component linkage analysis in large pedigrees

Wei-Min Chen, Gonçalo R. Abecasis

Journal:

Genetic Epidemiology

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

15

Optimal designs for two-stage genome-wide association studies

Andrew D. Skol, Laura J. Scott, Gonçalo R. Abecasis, Michael Boehnke

Journal:

Genetic Epidemiology

Year:

2007

Language:

english

File:

PDF, 316 KB

english, 2007

16

Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies

Weihua Guan, Liming Liang, Michael Boehnke, Gonçalo R. Abecasis

Journal:

Genetic Epidemiology

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

17

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

Yun Li, Cristen J. Willer, Jun Ding, Paul Scheet, Gonçalo R. Abecasis

Journal:

Genetic Epidemiology

Year:

2010

Language:

english

File:

PDF, 508 KB

english, 2010

18

A comparison of approaches to account for uncertainty in analysis of imputed genotypes

Jin Zheng, Yun Li, Gonçalo R. Abecasis, Paul Scheet

Journal:

Genetic Epidemiology

Year:

2011

Language:

english

File:

PDF, 172 KB

english, 2011

19

Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008

Anthony J. Brookes, Stephen J. Chanock, Thomas J. Hudson, Leena Peltonen, Gonçalo Abecasis, Pui-Yan Kwok, Stephen W. Scherer

Journal:

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

20

Protein Tyrosine Phosphatase Gene PTPN22 Polymorphism in Psoriasis: Lack of Evidence for Association

Ioana Nistor, Rajan P. Nair, Philip Stuart, Ravi Hiremagalore, Rachel A. Thompson, Stefan Jenisch, Michael Weichenthal, Gonçalo R. Abecasis, Zhaohui S. Qin, Enno Christophers, Henry W. Lim, John J. Vo

Journal:

Journal of General Internal Medicine

Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

21

10.1038/86867

Cookson, William O.C.M., Ubhi, Baljinder, Lawrence, Robert, Abecasis, Gonçalo R., Walley, Andrew J., Cox, Helen E., Coleman, Rosemary, Leaves, Nicholas I., Trembath, Richard C., Moffatt, Miriam F., Ha

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 38 KB

english, 2001

22

A first-generation linkage disequilibrium map of human chromosome 22

Dawson, Elisabeth, Abecasis, Gonçalo R., Bumpstead, Suzannah, Chen, Yuan, Hunt, Sarah, Beare, David M., Pabial, Jagjit, Dibling, Thomas, Tinsley, Emma, Kirby, Susan

Journal:

Year:

2002

Language:

english

File:

PDF, 659 KB

english, 2002

23

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis

Abecasis, Gonçalo, Tam, Paul Kwong-Hang, Bustamante, Carlos D, Ostrander, Elaine A, Scherer, Stephen W, Chanock, Stephen J, Kwok, Pui-Yan, Brookes, Anthony J

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 88 KB

english, 2007

24

Corrigendum: Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

Skol, Andrew D, Scott, Laura J, Abecasis, Gonçalo R, Boehnke, Michael

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

25

Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

Raychaudhuri, Soumya, Ripke, Stephan, Li, Mingyao, Neale, Benjamin M, Fagerness, Jesen, Reynolds, Robyn, Sobrin, Lucia, Swaroop, Anand, Abecasis, Gonçalo, Seddon, Johanna M

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 268 KB

english, 2010

26

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Allen, Maxine, Heinzmann, Andrea, Noguchi, Emiko, Abecasis, Gonçalo, Broxholme, John, Ponting, Chris P, Bhattacharyya, Sumit, Tinsley, Jon, Zhang, Youming, Holt, Richard

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 1.18 MB

english, 2003

27

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

Skol, Andrew D, Scott, Laura J, Abecasis, Gonçalo R, Boehnke, Michael

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

28

In silico method for inferring genotypes in pedigrees

Burdick, Joshua T, Chen, Wei-Min, Abecasis, Gonçalo R, Cheung, Vivian G

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

29

New models of collaboration in genome-wide association studies: the Genetic Association Information Network

Manolio, Teri A, Rodriguez, Laura Lyman, Brooks, Lisa, Abecasis, Gonçalo, Ballinger, Dennis, Daly, Mark, Donnelly, Peter, Faraone, Stephen V, Frazer, Kelly, Gabriel, Stacey

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 283 KB

english, 2007

30

10.1038/ng728

Walley, Andrew J., Chavanas, Stéphane, Moffatt, Miriam F., Esnouf, Robert M., Ubhi, Baljinder, Lawrence, Robert, Wong, Kenny, Abecasis, Gonçalo R, Jones, E. Yvonne, Harper, John I., Hovnanian, Alain,

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

31

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Abecasis, Gonçalo R., Cherny, Stacey S., Cookson, William O., Cardon, Lon R.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 208 KB

english, 2001

32

Pedigree tests of transmission disequilibrium

Abecasis, Gonçalo R, Cookson, William OC, Cardon, Lon R

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 247 KB

english, 2000

33

Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample

Moffatt, Miriam F, Schou, Carsten, Faux, Jennifer A, Abecasis, Gonçalo R, James, Alan, Musk, A William, Cookson, William OCM

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 98 KB

english, 2001

34

The impact of genotyping error on family-based analysis of quantitative traits

Abecasis, Gonçalo R, Cherny, Stacey S, Cardon, Lon R

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

35

Some Properties of a Variance Components Model for Fine-Mapping Quantitative Trait Loci

Lon R. Cardon, Gonçalo R. Abecasis

Journal:

Behavior Genetics

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

36

Genotype-Imputation Accuracy across Worldwide Human Populations

Lucy Huang, Yun Li, Andrew B. Singleton, John A. Hardy, Gonçalo Abecasis, Noah A. Rosenberg, Paul Scheet

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

37

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

Dina Ruano, Gonçalo R. Abecasis, Beate Glaser, Esther S. Lips, L. Niels Cornelisse, Arthur P.H. de Jong, David M. Evans, George Davey Smith, Nicolas J. Timpson, August B. Smit, Peter Heutink, Matthijs

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.50 MB

english, 2010

38

Response to Graffelman: Tests of Hardy-Weinberg Equilibrium

David J. Cutler, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 58 KB

english, 2010

39

Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals

Jun Ding, Johann E. Gudjonsson, Liming Liang, Philip E. Stuart, Yun Li, Wei Chen, Michael Weichenthal, Eva Ellinghaus, Andre Franke, William Cookson, Rajan P. Nair, James T. Elder, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 406 KB

english, 2010

40

Using haplotype blocks to map human complex trait loci

Lon R. Cardon, Gonçalo R. Abecasis

Journal:

Trends in Genetics

Year:

2003

Language:

english

File:

PDF, 851 KB

english, 2003

41

Regression models for association studies of quantitative trait loci in humans

Lon R. Cardon, Gonçalo R. Abecasis

Journal:

Year:

2000

Language:

english

File:

PDF, 204 KB

english, 2000

42

Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

Gonçalo R. Abecasis, Emiko Noguchi, Andrea Heinzmann, James A. Traherne, Sumit Bhattacharyya, Nicholas I. Leaves, Gavin G. Anderson, Youming Zhang, Nicholas J. Lench, Alisoun Carey, Lon R. Cardon, Mir

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 322 KB

english, 2001

43

The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples

Gonçalo R. Abecasis, William O.C. Cookson, Lon R. Cardon

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.46 MB

english, 2001

44

Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees

Pak C. Sham, Shaun Purcell, Stacey S. Cherny, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 706 KB

english, 2002

45

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1

Gonçalo R. Abecasis, Rachel A. Burt, Diana Hall, Sylvia Bochum, Kimberly F. Doheny, S. Laura Lundy, Marie Torrington, J. Louw Roos, Joseph A. Gogos, Maria Karayiorgou

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.64 MB

english, 2004

46

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information

Tasha E. Fingerlin, Michael Boehnke, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 351 KB

english, 2004

47

No Bias in Linkage Analysis

Goncalo Abecasis, Nancy Cox, Mark J. Daly, Leonid Kruglyak, Nan Laird, Kyriacos Markianos, Nick Patterson

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

48

Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal

Mingyao Li, Michael Boehnke, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 391 KB

english, 2005

49

A Note on Exact Tests of Hardy-Weinberg Equilibrium

Janis E. Wigginton, David J. Cutler, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.74 MB

english, 2005

50

Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration

Sepideh Zareparsi, Kari E.H. Branham, Mingyao Li, Sapna Shah, Robert J. Klein, Jurg Ott, Josephine Hoh, Gonçalo R. Abecasis, Anand Swaroop

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005