Scalable Functional Assays for the Interpretation of Human Genetic Variation.
Sign Up to like & getrecommendations! Published in 2022 at "Annual review of genetics"
DOI: 10.1146/annurev-genet-072920-032107
Abstract: Scalable sequence-function studies have enabled the systematic study and cataloging of hundreds of thousands of coding and noncoding genetic variants in the human genome. This has improved clinical variant interpretation and provided insights into the… read more here.
Keywords: interpretation human; interpretation; functional assays; scalable functional ... See more keywords
Exploration of Tools for the Interpretation of Human Non-Coding Variants
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232112977
Abstract: The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of… read more here.
Keywords: interpretation human; human non; exploration tools; interpretation ... See more keywords