New to MyHealth?
Manage Your Care From Anywhere.
Access your health information from any device with MyHealth. ÌýYou can message your clinic, view lab results, schedule an appointment, and pay your bill.
ALREADY HAVE AN ACCESS CODE?
DON'T HAVE AN ACCESS CODE?
NEED MORE DETAILS?
MyHealth for Mobile
WELCOME BACK
Scalable Functional Assays for the Interpretation of Human Genetic Variation.
ÌÇÐÄ´«Ã½
Scalable Functional Assays for the Interpretation of Human Genetic Variation. Annual review of genetics Tabet, D., Parikh, V., Mali, P., Roth, F. P., Claussnitzer, M. 2022Abstract
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 molecular, biophysical, and cellular effects of genetic variants at an astonishing scale and resolution across the spectrum of allele frequencies. In this review, we explore current applications and prospects for the field, and outline the principles underlying scalable functional assay design, with a focus on the study of single-nucleotide coding and noncoding variants. Expected final online publication date for the Annual Review of Genetics, Volume 56 is November 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
View details for
View details for