Article
Next generation sequencing and rare genetic variants: from human population studies to medical genetics.
Environmental and molecular mutagenesis - 1 Aug 2013
Matullo Giuseppe, Di Gaetano Cornelia, Guarrera Simonetta
Abstract excerpt
The allelic frequency spectrum emerging from several Next Generation Sequencing (NGS) projects is revealing important details about evolutionary and demographic forces that shaped the human genome. Herein, we discuss some of the achievements of the use of low-frequency and rare variants from NGS studies. The majority of variants that affect protein-coding regions are recent and rare. Often, the novel rare...
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