Unified views on variant impact across many diseases.
Trends Genet
; 39(6): 442-450, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-36858880
ABSTRACT
Genomic studies of human disorders are often performed by distinct research communities (i.e., focused on rare diseases, common diseases, or cancer). Despite underlying differences in the mechanistic origin of different disease categories, these studies share the goal of identifying causal genomic events that are critical for the clinical manifestation of the disease phenotype. Moreover, these studies face common challenges, including understanding the complex genetic architecture of the disease, deciphering the impact of variants on multiple scales, and interpreting noncoding mutations. Here, we highlight these challenges in depth and argue that properly addressing them will require a more unified vocabulary and approach across disease communities. Toward this goal, we present a unified perspective on relating variant impact to various genomic disorders.
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Base de dados:
MEDLINE
Assunto principal:
Genoma
/
Genômica
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article