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A platform for experimental precision medicine: The extended BXD mouse family

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The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...

Public Library Science2015

For more than a century, it has been recognized that our genetic inheritance and our environment interact to shape who we are and how we act (nature vs. nurture), and the study of genetics has allowed us to explain why traits can vary dramatically betwee ...

EPFL2014

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The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. We used a ...

Cold Spring Harbor Laboratory Press2014

Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration

Purpose: Age-related macular degeneration (AMD) has been associated with a number of polymorphisms in genes in the complement pathway. We examined the potential genotype-phenotype correlation of complement factor B (CFB) (R32Q) polymorphisms in Caucasian p ...

Informa Healthcare2014

Robust Demographic Inference from Genomic and SNP Data

Matthieu Foll

We introduce a flexible and robust simulation-based framework to infer demographic parameters from the site frequency spectrum (SFS) computed on large genomic datasets. We show that our composite-likelihood approach allows one to study evolutionary models ...

Public Library of Science2013

Infectious diseases, both in their endemic and epidemic forms, have shaped the human genome. Ecology has also contributed to geographically constrained pressures on human populations. There are now multiple examples of population-specific genetic variants ...

2013

Systems Genetics of Metabolism : The Use of the BXD Murine Reference Panel for Multiscalar Integration of Traits

Johan Auwerx, Kristina Schoonjans, Pénélope Andreux, Richardus Houtkooper, Evan Graehl Williams

Metabolic homeostasis is achieved by complex molecular and cellular networks that differ significantly among individuals and are difficult to model with genetically engineered lines of mice optimized to study single gene function. Here, we systematically a ...

Cell Press2012

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

Sebastian Martin Waszak

Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread impact on individual traits. While recent advances, such as the population-scale sequencing of human genomes, facilitated the fine-scale mapping of CNVs, the ...

2011

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Nouchine Hadjikhani, Fei Chen

Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution(1). Recent extensive genome-wide association studies (GWASs) have identified numerous si ...

2010

Hypertension is a major health problem of largely unknown genetic origins. To identify new genes responsible for hypertension, genetic analysis of recombinant inbred strains of mice followed by human association studies might prove powerful and was exploit ...

Public Library of Science2009