publication . Other literature type . Article . 2015

Big data challenges in bone research: genome-wide association studies and next-generation sequencing.

Alonso, Nerea; Lucas, Gavin; Hysi, Pirro;
Open Access English
  • Published: 11 Feb 2015
  • Publisher: Nature Publishing Group
Abstract
Genome-wide association studies (GWAS) have been developed as a practical method to identify genetic loci associated with disease by scanning multiple markers across the genome. Significant advances in the genetics of complex diseases have been made owing to advances in genotyping technologies, the progress of projects such as HapMap and 1000G and the emergence of genetics as a collaborative discipline. Because of its great potential to be used in parallel by multiple collaborators, it is important to adhere to strict protocols assuring data quality and analyses. Quality control analyses must be applied to each sample and each single-nucleotide polymorphism (SNP...
Subjects
free text keywords: Article, Data science, Imputation (statistics), Genetic association, Data quality, Single-nucleotide polymorphism, Genome-wide association study, Genotyping, Genome, International HapMap Project, Medicine, business.industry, business
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publication . Other literature type . Article . 2015

Big data challenges in bone research: genome-wide association studies and next-generation sequencing.

Alonso, Nerea; Lucas, Gavin; Hysi, Pirro;