Spring Quarter 1997

April 1: Chris Amos

Topic: Ascertainment
Thompson, Sampling and Ascertainment in Genetic Epidemiology: A Tutorial Review.,Technical Report no. 243, Sections 8.1-8.3, 8.5, 1993.
Discussion Leaders: Eric

Topic: Cystic Fibrosis Example

Chu et al., Variable Deletion of Exon 9 Coding Sequences in Cystic Fibrosis Transmembrane Conductance Regulator Gene mRNA Transcripts in Normal Bronchial Epithelium, EMBO 10(6):1355-1363, 1991.

Chu et al., Genetic Basis of Variable Exon 9 Skipping in Cystic Fibrosis Transmembrane Conductance Regulator mRNA, Nature Genetics 3:151-156, 1993.

Kiesewetter et al., A Mutation in CFTR Produces Different Phenotypes Depending on Chromosomal Background, Nature Genetics 5: 274-277,1993.

Chillon et al., Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens, The New England Journal of Medicine, 332(2):1475-1480,1995.

Discussion Leaders: Ellen Wijsman

Topic: Breast Cancer Example

Whittemore et al., Prevalence and Contribution of BRCA1 Mutations in Breast Cancer and Ovarian Cancer: Results from 3 U.S. Population-Based Case-Control Studies of Ovarian Cancer., AJHG 60(3):496-504, 1997.

Discussion Leaders: Jinko, Beatrix

Topic: Selected Sampling in Sib Pairs I

Risch and Zhang, Extreme Discordant Sib Pairs for Mapping Quantitative Trait Loci in Humans, Science 268:1584-1589, 1995.

Risch and Zhang, Mapping Quantitative Trait Loci with Extreme Discordant Sib Pairs: Sampling Considerations, AJHG 58:836-843, 1996.

Discussion Leaders: Katrina

Topic: Selected Sampling in Sib Pairs II

Zhang and Risch, Mapping Quantitative-Trait Loci in Humans by use of Extreme Concordant Sib Pairs: Selected Sampling by Parental Phenotypes, AJHG 59:951-957,1996.

The Collaborative Study on the Genetics of Asthma, A Genome-wide Search for Asthma Susceptibility Loci in Ethnically Diverse Populations, Nature Genetics 15(4):389-392,1997.

Discussion Leaders: Nicky

Topic: Selected Sampling for Discrete Traits

Boehnke and Moll,Identifying pedigrees segregating at a major locus for a quantitative trait: an efficient strategy for linkage analysis.,AJHG 44(2):216-24,1989.

Van Eerdewegh et al., On the Use of Affected Individuals for Linkage, Multipoint Mapping and Linage Based Upon Affected Pedigree Members: Genetic Analysis Workshop 6, p. 153-158, 1989.

Skolnick et al., Effect of Sequential Sampling Rules and Ascertainment Correction on Genetic Analysis, Multipoint Mapping and Linage Based Upon Affected Pedigree Members: Genetic Analysis Workshop 6, p. 177-182, 1989.

Discussion Leaders: Warwick and Elizabeth

Topic: Intro. to Quantitative Genetics and Variance Components
Discussion Leaders: Lindsey

Topic: Variance Components Cont.

Amos-C-I.,Robust variance-components approach for assessing genetic linkage in pedigrees., Am-J-Hum-Genet. 54(3):535-43, 1994.

Discussion Leaders: Simon

Topic: Genotypic Configurations on Pedigrees
Discussion Leaders: Nuala Sheehan

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