Genetic Variation

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Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases.

Chen F, Zhang Y, Gibbons DL, et al. Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res. 2018;24(9):2182-2193. doi:10.1158/1078-0432.CCR-17-3378

A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in Associated With Reduced Energy Expenditure in American Indians.

Piaggi P, Masindova I, Muller YL, et al. A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in Associated With Reduced Energy Expenditure in American Indians. Diabetes. 2017;66(8):2284-2295. doi:10.2337/db16-1565

Within-host whole-genome deep sequencing and diversity analysis of human respiratory syncytial virus infection reveals dynamics of genomic diversity in the absence and presence of immune pressure.

Grad YH, Newman R, Zody M, et al. Within-host whole-genome deep sequencing and diversity analysis of human respiratory syncytial virus infection reveals dynamics of genomic diversity in the absence and presence of immune pressure. J Virol. 2014;88(13):7286-93. doi:10.1128/JVI.00038-14

Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.

Huckins LM, Hatzikotoulas K, Southam L, et al. Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Mol Psychiatry. 2018;23(5):1169-1180. doi:10.1038/mp.2017.88

Statistical Binning for Barcoded Reads Improves Downstream Analyses.

Shajii A, Numanagić I, Whelan C, Berger B. Statistical Binning for Barcoded Reads Improves Downstream Analyses. Cell Syst. 2018;7(2):219-226.e5. doi:10.1016/j.cels.2018.07.005

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17(8):699-708. doi:10.1016/S1474-4422(18)30215-1

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.

Schilit SLP, Morton CC. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet. 2018;137(1):55-62. doi:10.1007/s00439-017-1853-0

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Mahajan A, Wessel J, Willems SM, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018;50(4):559-571. doi:10.1038/s41588-018-0084-1

Mycobacterium tuberculosis Whole Genome Sequences From Southern India Suggest Novel Resistance Mechanisms and the Need for Region-Specific Diagnostics.

Manson AL, Abeel T, Galagan JE, et al. Mycobacterium tuberculosis Whole Genome Sequences From Southern India Suggest Novel Resistance Mechanisms and the Need for Region-Specific Diagnostics. Clin Infect Dis. 2017;64(11):1494-1501. doi:10.1093/cid/cix169

Assessing the Safety of Human Pluripotent Stem Cells and Their Derivatives for Clinical Applications.

Andrews PW, Ben-David U, Benvenisty N, et al. Assessing the Safety of Human Pluripotent Stem Cells and Their Derivatives for Clinical Applications. Stem Cell Reports. 2017;9(1):1-4. doi:10.1016/j.stemcr.2017.05.029

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