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Oncogenic mutations in cervical cancer: genomic differences between adenocarcinomas and squamous cell carcinomas of the cervix.

Wright AA, Howitt BE, Myers AP, et al. Oncogenic mutations in cervical cancer: genomic differences between adenocarcinomas and squamous cell carcinomas of the cervix. Cancer. 2013;119(21):3776-83. doi:10.1002/cncr.28288

The complete genome sequence of a Neanderthal from the Altai Mountains.

Prüfer K, Racimo F, Patterson N, et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 2014;505(7481):43-9. doi:10.1038/nature12886

Searching for missing heritability: designing rare variant association studies.

Zuk O, Schaffner SF, Samocha K, et al. Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A. 2014;111(4):E455-64. doi:10.1073/pnas.1322563111

Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data.

Radmanesh F, Devan WJ, Anderson CD, Rosand J, Falcone GJ, Alzheimer’s Disease Neuroimaging Initiative (ADNI). Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data. Eur J Hum Genet. 2014;22(10):1239-42. doi:10.1038/ejhg.2013.308

Smoking modifies the associated increased risk of future cardiovascular disease by genetic variation on chromosome 9p21.

Hamrefors V, Hedblad B, Hindy G, et al. Smoking modifies the associated increased risk of future cardiovascular disease by genetic variation on chromosome 9p21. PLoS One. 2014;9(1):e85893. doi:10.1371/journal.pone.0085893

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Kurki MI, Gaál EI, Kettunen J, et al. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS Genet. 2014;10(1):e1004134. doi:10.1371/journal.pgen.1004134

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014;94(2):233-45. doi:10.1016/j.ajhg.2014.01.010

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM, Auer PL, Bis JC, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94(2):223-32. doi:10.1016/j.ajhg.2014.01.009

Interactions between chromosomal and nonchromosomal elements reveal missing heritability.

Edwards MD, Symbor-Nagrabska A, Dollard L, Gifford DK, Fink GR. Interactions between chromosomal and nonchromosomal elements reveal missing heritability. Proc Natl Acad Sci U S A. 2014;111(21):7719-22. doi:10.1073/pnas.1407126111

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Yu Y, Triebwasser MP, Wong EKS, et al. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014;23(19):5283-93. doi:10.1093/hmg/ddu226