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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Zekavat SM, Ruotsalainen S, Handsaker RE, et al. Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2018;9(1):2606. doi:10.1038/s41467-018-04668-w

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018;102(5):744-759. doi:10.1016/j.ajhg.2018.02.021

Patient-derived xenografts undergo mouse-specific tumor evolution.

Ben-David U, Ha G, Tseng YY, et al. Patient-derived xenografts undergo mouse-specific tumor evolution. Nat Genet. 2017;49(11):1567-1575. doi:10.1038/ng.3967

Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.

Capper D, Stichel D, Sahm F, et al. Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathol. 2018;136(2):181-210. doi:10.1007/s00401-018-1879-y

Plasmepsin II-III copy number accounts for bimodal piperaquine resistance among Cambodian Plasmodium falciparum.

Bopp S, Magistrado P, Wong W, et al. Plasmepsin II-III copy number accounts for bimodal piperaquine resistance among Cambodian Plasmodium falciparum. Nat Commun. 2018;9(1):1769. doi:10.1038/s41467-018-04104-z

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Macé A, Tuke MA, Deelen P, et al. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun. 2017;8(1):744. doi:10.1038/s41467-017-00556-x

Whole-Genome Analysis Illustrates Global Clonal Population Structure of the Ubiquitous Dermatophyte Pathogen .

Persinoti GF, Martinez DA, Li W, et al. Whole-Genome Analysis Illustrates Global Clonal Population Structure of the Ubiquitous Dermatophyte Pathogen . Genetics. 2018;208(4):1657-1669. doi:10.1534/genetics.117.300573

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

Estrada K, Whelan CW, Zhao F, et al. A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. Nat Commun. 2018;9(1):1929. doi:10.1038/s41467-018-04332-3

Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells.

Meyers RM, Bryan JG, McFarland JM, et al. Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells. Nat Genet. 2017;49(12):1779-1784. doi:10.1038/ng.3984

Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma.

Robertson G, Shih J, Yau C, et al. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell. 2017;32(2):204-220.e15. doi:10.1016/j.ccell.2017.07.003