Unique roles of rare variants in the genetics of complex diseases in humans.

Abstract excerpt

Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using disease-specific custom SNP arrays. Rare variants sequencing analysis mainly revealed have played unique roles in the genetics of complex diseases in...

Topics

• Gene Frequency
• Genetic Predisposition to Disease
• Genetic Variation
• Genome, Human
• Genome-Wide Association Study
• Genotype
• Humans
• Polymorphism, Single Nucleotide
• Precision Medicine
• Whole Genome Sequencing