Other examples are the 1000 genomes project data, the Database of Genomic Variants [34], and more local databases like LuCamp containing 700.000 SNPS from 2000 Danish individuals [35].
Therefore, whole genome sequencing is necessary for a detailed study of rare genomic variants.
The Database of Genomic Variants currently listed more than 15,000 CNV loci in the human genome (The Database of Genomic Variants 2013).
Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing.
At the outset, it gives the impression that phenotypic effects are predictable from genomic variants.
Additionally, 6% of patients with GGE carry other, potentially pathogenic structural genomic variants.
Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Knowledge of the effect size and nature of inheritance (Mendelian or polygenic) of the genomic variants is critical for predictability.
Genetic association studies are central to efforts to identify and characterise genomic variants underlying susceptibility to multifactorial disease.
Advances in next-generation sequencing (NGS) technologies have greatly improved our ability to detect genomic variants for biomedical research.
To mimic complicated genomic variants in human diseases, such as multiple gene deletions or mutations, two or more small guide RNAs (sgRNAs) need to be introduced all together.
