Tag: Review


[PMID:28622505] [Cell]

An Expanded View of Complex Traits: From Polygenic to Omnigenic

“A central goal of genetics is to understand the links between genetic variation and disease. Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology. But for complex traits, association signals tend to be spread across most of the genome—including near many genes without an obvious connection to disease. We propose that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways. We refer to this hypothesis as an “omnigenic” model.”

TP53 Mutation Guideline

[PMID:28254861] [Cancer Research]

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

“Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors… In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing TP53 status in clinical samples.”