Somatic mutations in autoinflammatory and autoimmune disease
Somatic mutations (also known as acquired mutations) are emerging as common, age-
related processes that occur in all cells throughout the body. Somatic mutations are …
related processes that occur in all cells throughout the body. Somatic mutations are …
WONOEP appraisal: Genetic insights into early onset epilepsies
A Quatraccioni, S Cases‐Cunillera, G Balagura… - …, 2024 - Wiley Online Library
Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and
variants have been identified in approximately one quarter of all patients. With technological …
variants have been identified in approximately one quarter of all patients. With technological …
A personalized multi-platform assessment of somatic mosaicism in the human frontal cortex
Somatic mutations in individual cells lead to genomic mosaicism, contributing to the intricate
regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection …
regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection …
Discovery and diagnostic interpretation of germline and mosaic variation in developmental conditions
E Valkanas - 2024 - search.proquest.com
Genome sequencing has provided paradigm shifting access to variability across humans.
Sequencing technologies have discovered variants that can influence specific phenotypes …
Sequencing technologies have discovered variants that can influence specific phenotypes …