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Genotyping and haplotyping are forms of genetic analysis that determine DNA sequence at sites of variation in a diploid (genotyping) or haploid (haplotyping) genomic complement. Haplotyping determines the specific combination of polymorphisms (sequence variants) along a chromosome that are inherited in blocks.
Incorporating protein-altering copy number variants ascertained from UK Biobank whole-exome sequencing data into analyses of rare predicted loss-of-function variants identifies complex trait associations not detectable using standard analysis methods.
The TOPMed consortium report whole-genome sequencing data from 53,831 ethnically diverse participants. They describe the key features of the genetic variation and produce data resources for future medical research by the wider scientific community.
Two studies in Nature describe the full data set of the UK Biobank resource, which contains genome-wide genetic data, clinical measurements and health records for ~500,000 individuals, and reveal insights into the brain’s genetic architecture.
A large validation study on the effect of single nucleotide polymorphisms on outcome and adverse events in sunitinib-treated patients with metastatic renal cell carcinoma (mRCC) only confirmed that ABCB1 and CYP3A5 variants are associated with progression-free survival and dose reductions, respectively. Does this mean 'game over' for polymorphism research in mRCC?
