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LETTER: Haplotype Information and Linkage Disequilibrium Mapping for Single Nucleotide Polymorphisms
- Xin Lu,
- Tianhua Niu,
- and Jun S. Liu
Genome Res. September 2003 13: 2112-2117; doi:10.1101/gr.586803
...–959. ↵ Fallin, D., Cohen, A., Essioux, L., Chumakov, I., Blumenfeld, M., Cohen, D., and Schork, N.J. 2001 . Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease. Genome Res. 11 : 143 –151. ↵ Gabriel, S.B., Schaffner, S...
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Perspective: Human genomic disease variants: A neutral evolutionary explanation
- Joel T. Dudley,
- Yuseob Kim,
- Li Liu,
- Glenn J. Markov,
- Kristyn Gerold,
- Rong Chen,
- Atul J. Butte,
- and Sudhir Kumar
Genome Res. August 2012 22: 1383-1394; Published in Advance June 4, 2012, doi:10.1101/gr.133702.111
...sites, which is supported by the analyses of whole and exome sequence data measured from diverse human populations (Gravel et al. 2011; Lohmueller et al. 2011). This would mean that the majority of disease-associated variations in the human population are likely due to low frequency and rare alleles...
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LETTER: Sequence Diversity and Large-Scale Typing of SNPs in the Human Apolipoprotein E Gene
- Deborah A. Nickerson,
- Scott L. Taylor,
- Stephanie M. Fullerton,
- Kenneth M. Weiss,
- Andrew G. Clark,
- Jari H. Stengård,
- Veikko Salomaa,
- Eric Boerwinkle,
- and Charles F. Sing
Genome Res. October 1, 2000 10: 1532-1545; doi:10.1101/gr.146900
...in a large sample those sites observed to vary in a smaller sample. We present results from a systematic investigation of variation at the human apolipoprotein E locus ( APOE ), as well as the evaluation of the two-tiered sampling strategy based on these data. We sequenced 5.5 kb spanning the entire APOE...
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Method: A scalable adaptive quadratic kernel method for interpretable epistasis analysis in complex traits
- Boyang Fu,
- Prateek Anand,
- Aakarsh Anand,
- Joel Mefford,
- and Sriram Sankararaman
Genome Res. September 2024 34: 1294-1303; Published in Advance August 29, 2024, doi:10.1101/gr.279140.124
...for Alzheimer's disease. Nat Genet 45: 1452–1458. doi:10.1038/ng.2802 ↵Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, Christiani DC, Wurfel MM, Lin X. 2012. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing...
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Review: Contrasting genetic architectures in different mouse reference populations used for studying complex traits
- David A. Buchner and
- Joseph H. Nadeau
Genome Res. June 2015 25: 775-791; Published in Advance May 7, 2015, doi:10.1101/gr.187450.114
...sought to discover the genetic variants responsible for susceptibility to complex diseases such as diabetes, Alzheimer’s disease, and multiple sclerosis as well as variants that regulate normal trait variation. These ongoing studies have focused on and exome sequencing aswell as on -wide association...
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METHODS: Trimming, Weighting, and Grouping SNPs in Human Case-Control Association Studies
- Josephine Hoh,
- Anja Wille,
- and Jurg Ott
Genome Res. December 1, 2001 11: 2115-2119; doi:10.1101/gr.204001
.... , Essioux L. , Chumakov I. , Blumenfeld M. , Cohen D. , Schork N.J. ( 2001 ) Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease. Genome Res. 11 : 143 – 151 . ↵ Feder J.N. , Gnirke A. , Thomas W. , Tsuchihasi Z. ( 1996...

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