Gene Frequency

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Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAs.

Gagnon JA, Valen E, Thyme SB, et al. Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAs. PLoS One. 2014;9(5):e98186. doi:10.1371/journal.pone.0098186

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets.

Strazisar M, Cammaerts S, Ven K, et al. MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. Mol Psychiatry. 2015;20(4):472-81. doi:10.1038/mp.2014.53

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

Deelen P, Menelaou A, van Leeuwen EM, et al. Improved imputation quality of low-frequency and rare variants in European samples using the ’Genome of The Netherlands’. Eur J Hum Genet. 2014;22(11):1321-6. doi:10.1038/ejhg.2014.19

Improving accuracy of rare variant imputation with a two-step imputation approach.

Kreiner-Møller E, Medina-Gomez C, Uitterlinden AG, Rivadeneira F, Estrada K. Improving accuracy of rare variant imputation with a two-step imputation approach. Eur J Hum Genet. 2015;23(3):395-400. doi:10.1038/ejhg.2014.91

Rs964184 (APOA5-A4-C3-A1) is related to elevated plasma triglyceride levels, but not to an increased risk for vascular events in patients with clinically manifest vascular disease.

van de Woestijne AP, van der Graaf Y, de Bakker PIW, et al. Rs964184 (APOA5-A4-C3-A1) is related to elevated plasma triglyceride levels, but not to an increased risk for vascular events in patients with clinically manifest vascular disease. PLoS One. 2014;9(6):e101082. doi:10.1371/journal.pone.0101082

Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility.

Yu M, Bardia A, Aceto N, et al. Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility. Science. 2014;345(6193):216-20. doi:10.1126/science.1253533

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

Du M, Auer PL, Jiao S, et al. Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Hum Mol Genet. 2014;23(24):6607-15. doi:10.1093/hmg/ddu361

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.

Wang Z, Zhu B, Zhang M, et al. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Hum Mol Genet. 2014;23(24):6616-33. doi:10.1093/hmg/ddu363

Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations.

Okada Y, Kim K, Han B, et al. Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations. Hum Mol Genet. 2014;23(25):6916-26. doi:10.1093/hmg/ddu387

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Lim ET, Würtz P, Havulinna AS, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014;10(7):e1004494. doi:10.1371/journal.pgen.1004494

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