Concept

Penetrance

Related publications (30)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

A tool for mapping microglial morphology, morphOMICs, reveals brain-region and sex-dependent phenotypes

Kathryn Hess Bellwald, Lida Kanari, Martina Scolamiero

Environmental cues influence the highly dynamic morphology of microglia. Strategies to characterize these changes usually involve user-selected morphometric features, which preclude the identification of a spectrum of context-dependent morphological phenot ...

NATURE PORTFOLIO2022

ZNF445 is a primary regulator of genomic imprinting

Didier Trono, Priscilla Turelli, Christian Axel Wandall Thorball, Evaristo Jose Planet Letschert, Sandra Eloise Kjeldsen, Michaël Imbeault, Andrea Coluccio

Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression. Zinc finger protein 57 (ZFP57) is critical for maintenance of this epigenetic memory during post-fertil ...

2019

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Alessandro Borghesi

Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient's exome with public databases to remove rep ...

NATL ACAD SCIENCES2019

The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform

Johan Auwerx, Martinus Gijs, Matteo Cornaglia, Hüseyin Baris Atakan

Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

2019

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

Imen Habibi

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Simulating the Large-Scale Erosion of Genomic Privacy Over Time

Mathias Jacques Jean-Marc Humbert, Verena Wolf, Xiaoyu Shen

The dramatically decreasing costs of DNA sequencing have triggered more than a million humans to have their genotypes sequenced. Moreover, these individuals increasingly make their genomic data publicly available, thereby creating privacy threats for thems ...

IEEE COMPUTER SOC2018

TOWARD THE IDENTIFICATION OF NEW CANCER THERAPY TARGETS USING METABOLIC MODELING IN A HUMAN GENOME SCALE

Vassily Hatzimanikatis, Meriç Ataman, Georgios Fengos, Maria Masid Barcon

Cancer is a leading cause of death in the world, and the mechanisms that underlie this disease are still not completely understood. In the last decades, altered tumor metabolism has been recognized as one of the hallmarks of cancer. Modeling the different ...

2017

A Microfluidic Platform Enables Large-Scale Single-Cell Screening to Identify Genes Involved in Bacterial Persistence

Amanda Verpoorte

Persistent cells, representing a small fraction of a bacterial population, are refractory to antibiotic therapy. It is a phenotypic transient state. The underlying mechanisms of persistence remain largely unknown, but even divergent hypotheses agree on a f ...

EPFL2017

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