Literature
Recommended journals[edit]
- American Journal of Epidemiology
- American Journal of Human Genetics
- Genetic Epidemiology
- Human Molecular Genetics
- Nature
- Nature Genetics
- PLoS Genetics
- PNAS
You can add all of the RSS feeds for these journals to your favorite RSS reader with this bundle.
Journal Club[edit]
Introductory Stat Gen articles[edit]
Articles recommended for review[edit]
New interesting article
Dickson et al. Rare Variants Create Synthetic Genome-Wide Associations. PLoS Biology 8(1):e1000294 (2010). (PDF)
Gnirke et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nature Biotechnology 27:182-9 (2009). (PDF)
Capelson et al. Chromatin-Bound Nuclear Pore Components Regulate Gene Expression in Higher Eukaryotes. Cell 140(3):372-83 (2010). (PDF)
Raj et al. Variability in gene expression underlies incomplete penetrance. Nature 463:913-918 (2010) (PDF)
Kircher et al. Improved base calling for the Illumina Genome Analyzer using machine learning strategies. Genome Biology 10:R83 (2009). (PDF)
Wu and Nacu. Fast and SNP-tolerant detection of complex variants and splicing in short reads. Bioinformatics Advance Access (2010). (PDF)
Ghahramani Z and Jordan MI. Factorial Hidden Markov Models. Machine Learning 29:245-273
Recently reviewed articles[edit]
- Improved base calling for the Illumina Genome Analyzer using machine learning strategies
- An evaluation of statistical approaches to rare variant analysis in genetic association studies
- Sense from sequence reads: methods for alignment and assembly
- Lost in the space of bioinformatic tools: A constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox
- Amino-acid imbalance explains extension of lifespan by dietary restriction in Drosophila
Summer 2010 Rare Variants Journal Club[edit]
July 28th[edit]
Cirulli ET & Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010 Jun; 11(6): 415-25.(PDF)
August 4th[edit]
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Li B, Leal SM. Am J Hum Genet. 2008 Sep;83(3):311-21. Epub 2008 Aug 7.(PDF)
August 11th[edit]
A groupwise association test for rare mutations using a weighted sum statistic. Madsen BE, Browning SR. PLoS Genet. 2009 Feb;5(2):e1000384. Epub 2009 Feb 13.(PDF)
August 18th[edit]
Power of deep, all-exon resequencing for discovery of human trait genes. Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3871-6. Epub 2009 Feb 6.(PDF)
August 25th[edit]
Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies. Wu MC, Kraft P, Epstein MP, Taylor DM, Chanock SJ, Hunter DJ, Lin X. Am J Hum Genet. 2010 Jun 2.(PDF)
September 1st[edit]
A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants. Han F, Pan W. Hum Hered. 2010;70(1):42-54. Epub 2010 Apr 23.(PDF)
Additional Readings or Further Presentations[edit]
Pooled association tests for rare variants in exon-resequencing studies. Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Am J Hum Genet. 2010 Jun 11;86(6):832-8. Epub 2010 May 13.(PDF)
