Concept

Heritability

Related publications (75)

Confronting false discoveries in single-cell differential expression

Grégoire Courtine, Gioele La Manno, Quentin Barraud, Jordan Squair, Mark Andrew Anderson, Claudia Kathe, Nicholas David James, Matthieu Pierre Gautier, Michael Alexander Skinnider, Rémi Bernard René Hudelle, Thomas Haynes Hutson

Differential expression analysis of single-cell transcriptomics allows scientists to dissect cell-type-specific responses to biological perturbations. Here, the authors show that many commonly used methods are biased and can produce false discoveries. Diff ...

NATURE PORTFOLIO2021

Confounding factors from inducible systems for spatiotemporal gene expression regulation

Johan Auwerx, Richardus Houtkooper

Spatiotemporally regulated targeted gene manipulation is a common way to study the effect of gene variants on phenotypic traits, but the Cre/loxP and Tet-On/Tet-Off systems can affect whole-organism physiology and function due to off-target effects. We hig ...

ROCKEFELLER UNIV PRESS2020

A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma

Anthony Christopher Davison, Jörg Hager, Hélène Ruffieux, Radu Popescu

Molecular quantitative trait locus (QTL) analyses are increasingly popular to explore the genetic architecture of complex traits, but existing studies do not leverage shared regulatory patterns and suffer from a large multiplicity burden, which hampers the ...

PUBLIC LIBRARY SCIENCE2020

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

2020

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Imen Habibi

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...

2019

Revealing evolutionary constraints on proteins through sequence analysis

Anne-Florence Raphaëlle Bitbol

Statistical analysis of alignments of large numbers of protein sequences has revealed sectors of collectively coevolving amino acids in several protein families. Here, we show that selection acting on any functional property of a protein, represented by an ...

2019

Systems genetics approaches to probe gene function

Hao Li

Genes are the functional units of heredity. However, the functions of many genes remain unknown, which impedes the understanding of the underlying mechanism of complex traits and diseases. Systems genetics approaches try to understand the complexity underl ...

EPFL2019

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients

Imen Habibi

Background Retinitis pigmentosa (RP) affects 2.5 million people worldwide. Increased identification of causative gene defects and the increasing possibility of treatment necessitates better knowledge of phenotype-genotype correlations to help identify pati ...

2019

Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel

Johan Auwerx, Bart Deplancke, Virginie Sandra Braman, Adamantia Kapopoulou, Maria Litovchenko, Brian Dennis Hollis, Roel Paulus Josephus Bevers

The nature and extent of mitochondrial DNA variation in a population and how it affects traits is poorly understood. Here we resequence the mitochondrial genomes of 169 Drosophila Genetic Reference Panel lines, identifying 231 variants that stratify along ...

2019

Dissecting HIV Virulence: Heritability of Setpoint Viral Load, CD4+ T Cell Decline and Per-Parasite Pathogenicity

Jacques Fellay, Gabriel Leventhal

Pathogen strains may differ in virulence because they attain different loads in their hosts, or because they induce different disease-causing mechanisms independent of their load. In evolutionary ecology, the latter is referred to as" per-parasite pathogen ...

Oxford University Press2018

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