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Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Journal of the National Cancer Institute

Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
PMID: 29618041
J Natl Cancer Inst. 2018 Oct 01;110(10):1059-1066. doi: 10.1093/jnci/djy027.

BACKGROUND: In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized that the rate of variant reclassification likewise differs by ancestry.METHODS: Nonbenign variants in actionable genes were collected from consenting...

The role of mitochondrial genome in essential hypertension in a Chinese Han population.

European journal of human genetics : EJHG

Zhu HY, Wang SW, Martin LJ, Liu L, Li YH, Chen R, Wang L, Zhang ML, Benson DW.
PMID: 19401720
Eur J Hum Genet. 2009 Nov;17(11):1501-6. doi: 10.1038/ejhg.2009.63. Epub 2009 Apr 29.

Earlier genetic studies of essential hypertension have focused on nuclear genes or family-based mitochondrial screening in Caucasian and African-American pedigrees. The role of mitochondria in sporadic Chinese hypertensives is unknown. We sequenced mitochondrial genomes in 306 age- and gender-balanced...

PSIKO2: a fast and versatile tool to infer population stratification on various levels in GWAS.

Bioinformatics (Oxford, England)

Popescu AA, Huber KT.
PMID: 26142187
Bioinformatics. 2015 Nov 01;31(21):3552-4. doi: 10.1093/bioinformatics/btv396. Epub 2015 Jul 02.

UNLABELLED: Genome-wide association studies are an invaluable tool for identifying genotypic loci linked with agriculturally important traits or certain diseases. The signal on which such studies rely upon can, however, be obscured by population stratification making it necessary to...

HEROD: a human ethnic and regional specific omics database.

Bioinformatics (Oxford, England)

Zeng X, Tao L, Zhang P, Qin C, Chen S, He W, Tan Y, Xia Liu H, Yang SY, Chen Z, Jiang YY, Chen YZ.
PMID: 28549078
Bioinformatics. 2017 Oct 15;33(20):3276-3282. doi: 10.1093/bioinformatics/btx340.

MOTIVATION: Genetic and gene expression variations within and between populations and across geographical regions have substantial effects on the biological phenotypes, diseases, and therapeutic response. The development of precision medicines can be facilitated by the OMICS studies of the...

Showing 1 to 4 of 4 entries