Course Materials for Human Genetics II: Introductory Statistical Genetics

      Lecture Notes
 

Lecture One Notes (01.07.03) [PPT]

Lecture Two Notes (01.09.03) [PPT]

 

 

      Additional Course Handouts
 

UNIX help section outline [DOC]

Genehunter section outline [DOC]

HW1 section excel file [XLS]

Midterm review sheet [DOC]

QTL section outline [DOC]

Interaction section outline [DOC]

Markov Chains section handout [PDF]

      Papers
 

Week One

Tuesday: (01.07.03)

1. Falconer DS (1965). The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet. (London) 29:51-76. [PDF]
2. Risch, N (1990). Linkage Strategies for Genetically complex traits II. The power of affected relative pairs. AJHG 46: 229-241. [PDF]

Thursday: (01.09.03)

1. Pritchard, JK (2001) Are rare variants responsible for susceptibility to complex diseases? AJHG 69:124-137. [PDF]
2. Reich DE and Lander ES (2001) On the allelic spectrum of human disease. Trends Genet. 17(9):502-510. [PDF]

Optional Week One Reading:

1. Risch N (1990). Linkage Strategies for genetically complex traits I. Multilocus models. AJHG 46:222-228. [PDF]
2. Lalouel J-M et al. (1983) A unified model for complex segregation analysis. AJHG 35:816-826. [PDF]

 

Week Two

Tuesday: (01.14.03)

1. Suarez BK and Cox NJ (1982). Linkage Analysis I. Basic Concepts. [PDF]
2. Kruglyak L et al. (1996). Parametric and nonparametric linkage analysis: A unified multipoint approach. AJHG 58:1347-1363. [PDF]

Thursday: (01.16.03)
1. Davies et al. (1994). A genome-wide search for human type I diabetes susceptibility genes. Nature 371:130-136. [PDF]
2. Cox NJ et al (2001). Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. AJHG 69:820-830. [PDF]

 

Week Three

Tuesday: (01.21.03)

1. Jorde LB (2000). Linkage disequilibrium and the search for complex disease genes. Genome Res 10:1435-1444. [PDF]
2. Weiss KM and Clark AG (2002) Linkage disequilibrium and the mapping of complex human traits. Trends Genetics 18:19-24. [PDF]

Thursday: (01.23.03)

1. Spielman RS et al (1993). Transmission test for linkage disequilibrium: The insulin gene region and insulin dependent diabetes mellitus (IDDM). AJHG 52:506-516. [PDF]
2. Spielman RS and Ewens WJ (1996) The TDT and other family-based tests for linkage disequilibrium and association. AJHG 59:983-989. [PDF]

 

Week Four

1. Pritchard et al (2000). Association Mapping in Structured Populations. AJHG 67:170-181. [PDF]

2. Gabriel et al (2002). The Structure of Haplotype Blocks in the Human Genome. Science 296:2225-2229. [PDF] [Supp. Mat'l]

3. Slatkin M. and Excoffier L. (1995). Maximum-Likelihood Estimation of Molecular Haplotype Frequencies in a Diploid Population. Mol. Biol. Evol. 12:921-927. [PDF]

 

Week Five

1. McPeek and Strahs (1999). Assessment of Linkage Disequilibrium by the Decay of Haplotype Sharing, with Application to Fine Scale Genetic Mapping. AJHG 65:858-875. [PDF]

2. Risch and Merikangas (1996). The Future of Genetic Studies of Complex Human Diseases. Science 273:1516-1517 [PDF]

3. Risch (2000). Searching for genetic determinants in the new millenium. Nature 405:847-856. [PDF]

 

Week Six

Thursday: (02.13.03)

1. Selected Readings: Walsh and Lynch (1998). Genetics and Analysis of Quantitative Traits. 182-189, 745-751. [PDF]

 

Week Seven

Tuesday: (02.18.03)

1. McPeek and Sun (2000). Statistical Tests for Detection of Misspecfied Relationships by Use of Genome-Screen Data. AJHG 66:1076-1094. [PDF]

2. Sobel et al. (2002). Detection and Integration of Genotyping Errors is Statistical Genetics. AJHG 70:496-508. [PDF]

 

Week Eight

Tuesday: (02.25.03)

1. Boehnke, M. (2002). A look at Linkage Disequilibrium. Nat. Genet. 25:246-247. [PDF]

Thursday: (02.27.03)

1. Wiltshire et al. (2002). Evaluating the Results of Genomewide Linkage Scans of Complex Traits by Locus Counting. AJHG 71: 1175-1182. [PDF]

2. Lander, ES and Kruglyak, L. (1995). Genetic Dissection of Complex Traits: Guidelines for Interpreting and Reporting Linkage Results. Nat. Genet. 11(3):241-247. [PDF]

Friday: (02.28.03)

1. Rabiner, L. (1989). A Tutorial on Hideen Markov Models and Selected Applications in Speech Recognition. Proc. IEEE.  77:257-274, 284-285. [PDF]

 

Week Nine

1. Cox et al. (1999) Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nat. Genet. 21:213-215. [PDF]

2. Sun L, Cox, NJ, and McPeek, S. (2002). A Statistical Method for Identification of Polymorphisms that Explain a Linkage Result. AJHG 70:399-411. [PDF]

3. Hoh J. et al (2001). Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res. 11:2115-2119. [PDF]

 

Week Ten

Tuesday: (03.11.03)

1. Hoh et al (from above)

2. Horikawa, Y. et al. (2000). Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat. Genet. 26: 163-175. [PDF]

Thursday: (03.13.03)

1. Stefansson, H. et al. (2002). Neuregulin 1 and susceptibility to schizophrenia. AJHG 71: 877-892. [PDF]

2. Van Eerdewegh, P. et al (2002). Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 418: 426-430. [PDF]


Updated 03.07.03