Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.

Published in: Genes (2024)

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...].

Keyphrases

genome wide
smoking cessation
hiv testing
copy number
high throughput
single cell
gene expression
dna methylation
men who have sex with men
combination therapy
replacement therapy
human immunodeficiency virus