Topic: The problem of identification of rare variants that influence traits, given the vast amount of rare DNA variability.
Faculty contact: Ellen Wijsman. wijsman@uw.edu.
January 5: Organization.
January 12: Lisa, Qian, (Bruce)
Marth et al. 2011 The functional spectrum of low-frequency coding variation. Genome Biology 12(9) Special Issue: SI Article Number: R84. doi:10.1186/gb-2011-12-9-r84.
January 19: Taryn, Anna, (Serge)
Lidsky et al 1985 "Extensive restriction site polymorphism at the human phenylalanine-hydroxylase locus and application in prenatal-diagnosis of phenylketonuria." Am J Hum Genet 37, 619-634. PMC1684630
and
Konecki and Lichterkonecki 1991 "The phenylketonuria locus - current knowledge about alleles and mutations of the phenylalanine-hydroxylase gene in various populations" Human Genetics 87, 377-388, download here.
January 26: Tracy, Xiaowen, (Sharon)
Browning & Thompson 2012 "Detecting rare variant associations by identity-by-descent mapping in case-control studies" Genetics 190, 1521-1531. DOI: 10.1534/genetics.111.136937.
February 2: Anya, Kelsey, Fiona, (Tim)
Lee et al 2013 "Rare-variant Association Analysis: Study Designs and Statistical Tests" Am J Hum Genet 95, 5-23 DOI: 10.1016/j.ajhg.2014.06.009 .
February 9: Eric, Jenn, (Matt)
Wu et al 2011 Rare-variant association testing for sequencing data with the sequence kernal association test. Am J Hum Genet 89, 82-93 doi:10.1016/j.ajhg.2011.05.029and
Chen et al 2013 "Sequence Kernal association test for quantitative traits in family samples. Genet Epidemiol 37, 196-204 DOI: 10.1002/gepi.21703
February 16: Caitlin
February 23: Yatong, Bowen, (Andrew)
Ionita-Laza & Ottman 2011 "Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs." Genetics 189, 1061-1068 DOI: 10.1534/genetics.111.131813.
March 1: Alice, Aaron, (Rafael, Ellen)
Baud et al 2013 "Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet 45, 767-775 doi:10.1038/ng.2644
March 8: Nan