Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

CFTR modulators: shedding light on precision medicine for cystic fibrosis

M Lopes-Pacheco - Frontiers in pharmacology, 2016 - frontiersin.org
Cystic fibrosis (CF) is the most common life-threatening monogenic disease afflicting
Caucasian people. It affects the respiratory, gastrointestinal, glandular and reproductive …

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

SE Castel, A Cervera, P Mohammadi, F Aguet… - Nature …, 2018 - nature.com
Coding variants represent many of the strongest associations between genotype and
phenotype; however, they exhibit inter-individual differences in effect, termed 'variable …

Pan-transcriptome reveals a large accessory genome contribution to gene expression variation in yeast

É Caudal, V Loegler, F Dutreux, N Vakirlis… - Nature Genetics, 2024 - nature.com
Gene expression is an essential step in the translation of genotypes into phenotypes.
However, little is known about the transcriptome architecture and the underlying genetic …

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

S Riazuddin, M Hussain, A Razzaq, Z Iqbal… - Molecular …, 2017 - nature.com
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …

Genotypic context and epistasis in individuals and populations

TB Sackton, DL Hartl - Cell, 2016 - cell.com
Genes encode components of coevolved and interconnected networks. The effect of
genotype on phenotype therefore depends on genotypic context through gene interactions …

Circuit diversification in a biofilm regulatory network

MY Huang, CA Woolford, G May, CJ Mcmanus… - PLoS …, 2019 - journals.plos.org
Genotype-phenotype relationships can vary extensively among members of a species. One
cause of this variation is circuit diversification, the alteration of gene regulatory relationships …

[PDF][PDF] Natural genetic variation as a tool for discovery in Caenorhabditis nematodes

EC Andersen, MV Rockman - Genetics, 2022 - academic.oup.com
Over the last 20 years, studies of Caenorhabditis elegans natural diversity have
demonstrated the power of quantitative genetic approaches to reveal the evolutionary …

Paralog buffering contributes to the variable essentiality of genes in cancer cell lines

B De Kegel, CJ Ryan - PLoS genetics, 2019 - journals.plos.org
What makes a gene essential for cellular survival? In model organisms, such as budding
yeast, systematic gene deletion studies have revealed that paralog genes are less likely to …

CRISPR/Cas9-mediated knockout of myostatin in Chinese indigenous Erhualian pigs

K Wang, X Tang, Z **e, X Zou, M Li, H Yuan, N Guo… - Transgenic …, 2017 - Springer
CRISPR/Cas9 has emerged as one of the most popular genome editing tools due to its
simple design and high efficiency in multiple species. Myostatin (MSTN) negatively …