Human Genetics Journal Club
University of Wisconsin–Madison

Faculty and students from numerous departments meet monthly to discuss papers from the human genetics literature, with a particular focus on the genetic dissection of complex diseases.

If you would like to suggest an article for discussion, email Corinne Engelman, cengelman at wisc.edu


Past meetings 10 Apr 2015, 3:00pm, 1205 Microbial Sciences
Aschard et al. (2015) Adjusting for heritable covariates can bias effect estimates in genome-wide association studies. Am J Hum Genet 96:329-339
[pdf | PubMed | At journal]

6 Mar 2015, 3:00pm, 1205 Microbial Sciences
Johnston et al. (2015) Population genetics identifies challenges in analyzing rare variants. Genet Epidemiol, to appear
[pdf]

25 Apr 2014, 3:00pm, 1419 WARF
Charles et al. (2014) Accounting for linkage disequlibirium in association analysis of diverse populations. Genet Epidemiol 38:265-273
[pdf | PubMed | At journal]

21 Mar 2014, 3:00pm, 1419 WARF
Plomin et al. (2013) Common DNA markers can account for more than half of the genetic influence on cognitive abilities. Psychol Sci 24:562-568
[pdf | PubMed | At journal]

21 Feb 2014, 3:00pm, 1419 WARF
Pan et al. (2014) A system-level pathway-phenotype association analysis using synthetic feature random forest. Genet Epidemiol, in press
[pdf | At journal]

11 Oct 2013, 3:00pm, 1205A Microbial Sciences
Khurana et al. (2013) Integrative annotation of variants from 1092 humans: Application to cancer genomics. Sci ence 342:1235587
[PubMed | pdf (with supplement) | At journal]

19 Apr 2013, 3:30pm, 1205A Microbial Sciences
Ma et al. (2013) Gene-based testing of interactions in association studies of quantitative traits. PLoS Genet 9:e1003321
[PubMed | pdf | At journal | Supporting information (zip)]

15 Mar 2013, 3:30pm, 1205A Microbial Sciences
Main paper:Manolio et al. (2013) Implementing genomic medicine in the clinic: the future is here. Genetics in Medicine, in press
[PubMed | pdf | At journal]
Commentary:Evans and Khoury (2013) The arrival of genomic medicine to the clinic is only the beginning of the journey. Genetics in Medicine, in press
[PubMed | pdf | At journal]

15 Feb 2013, 3:30pm, 1205A Microbial Sciences
Vimaleswaran et al. (2013) Causal relationship between obesity and vitamin D status: Bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Medicine 10:e1001383
[PubMed | pdf | At journal]

14 Dec 2012, 3:30pm, 3503 Microbial Sciences
Main paper:Tzoulaki et al. (2012) A nutrient-wide association study on blood pressure. Circulation 126:2456-2464
[PubMed | pdf | At journal]
Related: Scientific American article

16 Nov 2012, 3:30pm, 1205A Microbial Sciences
Main paper:Li et al. (2012) Inflammatory Bowel Diseases phenotype, C. difficile and NOD2 genotype are associated with shifts in human ileum associated microbial composition. PLoSONE 7:e26284
[PubMed | pdf | At journal | Supplement (pdf)]
Related: Human Microbiome Project
Economist article
New Yorker article
New York Times article

19 Oct 2012, 3:30pm, 1205A Microbial Sciences
Tennessen et al. (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64-69
[PubMed | pdf | At journal | Supplement (pdf)]

21 Sept 2012, 3:30pm, 1205A Microbial Sciences
ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489:57-74
[PubMed | pdf | At journal]

11 May 2012, 3pm, 6201 Microbial Sciences
Sanders et al. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, to appear
[PubMed | pdf | At journal]
O'Roak et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, to appear
[PubMed | pdf | At journal]
Neale et al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, to appear
[PubMed | pdf | At journal]

13 Apr 2012, 3pm, 6201 Microbial Sciences
Roberts et al. (2012) The predictive capacity of personal genome sequencing. Science Translational Medicine, Rapid Publication
[PubMed | pdf | At journal]

9 Mar 2012, 3pm, 1205A Microbial Sciences
Main paper: Zuk et al. (2012) The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci USA 109:1193-1198
[PubMed | pdf | At journal]
Related: Visscher et al. (2008) Heritability in the genomics era — concepts and misconceptions. Nat Rev Genet 9:255-266
[PubMed | pdf | At journal]

10 Feb 2012, 3pm, 6201 Microbial Sciences
Begum et al. (2012) Comprehensive literature review and statistical considerations for GWAS meta-analysis. Nucleic Acids Res, in press
[PubMed | pdf | At journal]
(Note that there's a related seminar the same day: Eleanor Feingold, Friday 10 Feb, noon-1pm, 140 Bardeen)

13 Jan 2012, 3pm, 1205A Microbial Sciences
Main paper:Worthey et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 13:255-262
[PubMed | pdf | At journal]
Related:Mayer et al. (2011) A timely arrival for genomic medicine. Genet Med 13:195-196
[PubMed | pdf | At journal]

9 Dec 2011, 3pm, 1205A Microbial Sciences
Fridley and Biernacka (2011) Gene set analysis of SNP data: benefits, challenges, and future directions. Eur J Hum Genet 19:837-843
[PubMed | pdf | At journal]

11 Nov 2011, 3pm, 6201 Microbial Sciences
Main paper:Surakka et al. (2011) A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS Genetics 7:e1002333
[PubMed | pdf | At journal]
Related:Wang et al. (2011) Statistical interaction in human genetics: how should we model it if we are looking for biological interaction? Nat Rev Genet 12:74
[PubMed | pdf | At journal]
Other related:Cordell (2009) Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet 10:392-404
[PubMed | pdf | At journal]
VanderWeele (2010) Empirical tests for compositional epistasis. Nat Rev Genet 11:166
[PubMed | pdf | At journal]

14 Oct 2011, 3pm, 6201 Microbial Sciences
Najmabadi et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57-63
[PubMed | pdf | At journal]

9 Sep 2011, 3pm, 6201 Microbial Sciences
Kho et al. (2011) Electronic medical records for genetic research: Results of the eMERGE Consortium. Sci Transl Med 3(79):79re1
[PubMed | pdf | At journal]
Roque et al. (2011) Using electronic patient records to discover disease correlations and stratify patient cohorts. PLoS Comp Biol 7(8):e1002141
[PubMed | pdf | At journal]

8 Apr 2011, 3pm, 6201 Microbial Sciences
Editorial: Shields (2011) Common Disease: Are Causative Alleles Common or Rare? PLoS Biol 9(1): e1001009
[PubMed | pdf | At journal]
Critiques: Wray et al. (2011) Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results. PLoS Biol 9(1): e1000579
[PubMed | pdf | At journal]
Anderson et al. (2011) Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals. PLoS Biol 9(1): e1000580
[PubMed | pdf | At journal]
Response: Goldstein (2011) The Importance of Synthetic Associations Will Only Be Resolved Empirically. PLoS Biol 9(1): e1001008
[PubMed | pdf | At journal]
Original paper: Dickson et al. (2010) Rare variants create synthetic genome-wide associations. PLoS Biol 8:e1000294
[PubMed | pdf | At journal]

11 Mar 2011, 3pm, 6201 Microbial Sciences
Main paper:Yang et al. (2010) Common SNPs explain a large proportion of the heritability for human height. Nat Genet 42:365-369
[PubMed | pdf | At journal]
Related:Visscher et al. (2010) A commentary on 'common SNPs explain a large proportion of the heritability for human height' by Yang et al. (2010). Twin Res Hum Genet 13:517-524
[PubMed | pdf]
Williams and Haines (2011) Correcting away the hidden heritability. Ann Hum Genet, to appear
[pdf | At journal]

11 Feb 2011, 3pm, 6201 Microbial Sciences
King, Rathouz, Nicolae (2010) An evolutionary framework for association testing in resequencing studies. PLoS Genetics 6(11):e1001202
[PubMed | pdf | At journal]

17 Dec 2010, 3pm, 1205A Microbial Sciences
de los Campos, Gianola, Allison (2010) Predicting genetic predisposition in humans: The promise of whole-genome markers. Nat Rev Genet 11:880-886
[PubMed | pdf | At journal]

19 Nov 2010, 3pm, 6201 Microbial Sciences
Main paper:Miyaki et al. (2010) Association of a cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) polymorphism with elevated hemoglobin A1 levels and the prevalence of metabolic syndrome in Japanese men: Interaction with dietary energy intake. Am J Epidemiol 172:985-991
[PubMed | pdf | At journal]
Commentary:Franks and Nettleton (2010) Invited commentary: Gene x lifestyle interactions and complex disease traits--inferring cause and effect from observational data, sine qua non. Am J Epidemiol 172:992-997
[PubMed | pdf | At journal]
Response:Miyaki et al. (2010) Miyaki et al. respond to "Gene x lifestyle interactions". Am J Epidemiol 172:998-999
[PubMed | pdf | At journal]

22 Oct 2010, 3pm, 6201 Microbial Sciences
Pelak et al. (2010) The characterization of twenty sequenced human genomes. PLoS Genet 9:e1001111
[PubMed | pdf | At journal]

17 Sep 2010, 3pm, 6201 Microbial Sciences
Zhong et al. (2010) Integrating pathway analysis and genetics of gene expression for genome-wide association studies. Am J Hum Genet 86:581-591
[PubMed | pdf | Supplement (pdf)]

14 May 2010, 3pm, 6201 Microbial Sciences
Human genome at ten: Life is complicated
[pdf | At journal]
McClellan and King (2010) Genetic heterogeneity in human disease. Cell 141:210-217
[PubMed | pdf | At journal]

16 Apr 2010, 3pm, 1420 WARF
Moore et al. (2010) Bioinformatics challenges for genome-wide association studies. Bioinformatics 26:445-455
[PubMed | pdf | At journal]

19 Mar 2010, 3pm, 6201 Microbial Sciences
Main paper:Paynter et al. (2010) Association between a literature-based genetic risk score and cardiovascular events in women. JAMA 303:631-637
[PubMed | pdf | At journal]
Related:Palomaki et al. (2010) Association between 9p21 genomic markers and heart disease. JAMA 303:648--656
[PubMed | pdf | At journal]
Lumley and Rice (2010) Potential for revealing individual-level information in genome-wide association studies. JAMA 303:659-660
[PubMed | pdf | At journal]
Other related: Wacholder et al. (2010) Performance of common genetic variants in breast-cancer risk models. N Engl J Med 362:986-993
[PubMed | At journal]
Moonesinghe et al. (2010) Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases. Eur J Hum Genet 18:485-489
[PubMed | At journal]

19 Feb 2010, 3pm, 6201 Microbial Sciences
Main papers:Amundadottir et al. (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 41:986-990
[PubMed | pdf | At journal]
Jones et al. (2009) Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324:217
[PubMed | pdf | At journal]
Related:Dickson et al. (2010) Rare variants create synthetic genome-wide associations. PLoS Biol 8:e1000294
[PubMed | pdf | At journal]

18 Dec 2009, 3pm, 6201 Microbial Sciences
Fardo et al. (2009) Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy-Weinberg equilibrium. Eur J Hum Genet 17:1676-1682.
[PubMed | pdf]

20 Nov 2009, 3pm, 6201 Microbial Sciences
Plomin et al. (2009) Common disorders are quantitative traits. Nat Rev Genet 10:872-878
[PubMed | pdf]

16 Oct 2009, 3pm, 1210 Medical Sciencs Center (MSC)
Main paper:Jallow et al. (2009) Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 41:657-665
[PubMed | pdf]
Related:Hao et al. (2009) Accuracy of genome-wide imputation of untyped markers and impacts on statistical power for association studies. BMC Genet 10:27
[PubMed | pdf]
Halperin and Stephan (2009) SNP imputation in association studies. Nat Biotechnol 27:349-351
[PubMed | pdf]

18 Sep 2009, 3pm, 6201 Microbial Sciences
Main paper:Myocardial Infarction Genetics Consortium (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 41:334-341
[PubMed | pdf]
Related:Hardy and Singleton (2009) Genomewide association studies and human disease. N Engl J Med 360:1759-1768
[PubMed | pdf]


Web maintainer: Karl Broman Last modified: Mon Nov 4 14:04:03 2013