.png){kind=icon}
.png){kind=icon}
Return
Unified views on variant impact across many diseases
.png){kind=icon}
OA
AI
DOI：10.1016/j.tig.2023.02.002.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
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 architec-ture of the disease, deciphering the impact of variants on multiple scales, and inter-preting 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.
Keywords:
PASSENGER MUTATIONS
MENDELIAN DISEASE
COMMON DISEASES
CANCER
GENOME
SEQUENCE
TOOL
GENES
ARCHITECTURE
ASSOCIATION
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
IF:
16.3
Papers:
3.4K
Citations:
1.5W