Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …

Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …

Genome-wide genotyping and DNA sequencing has led to the identification of large
numbers of genetic variants that are associated with many clinical phenotypes. The …

Sequencing technology enables the complete characterization of human genetic variation.
Statistical genetics studies identify numerous loci linked to or associated with phenotypes of …

Given the constantly improving cost and speed of genome sequencing, it is reasonable to
expect that personal genomes will soon be known for many millions of humans. This stands …

Variants of uncertain significance represent a massive challenge to medical genetics.
Multiplexed functional assays, in which the functional effects of thousands of genomic …

Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

New technologies have recently enabled saturation mutagenesis and functional analysis of
nearly all possible variants of regulatory elements or proteins of interest in single …

Sequencing has revealed hundreds of millions of human genetic variants, and continued
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …