Concept

Taux de mutation

Publications associées (165)

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Bernard Schneider, Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro

Since most dominant human mutations are single nucleotide substitutions(1,2), we explored gene editing strategies to disrupt dominant mutations efficiently and selectively without affecting wild-type alleles. However, single nucleotide discrimination can b ...

NATURE PUBLISHING GROUP2019

Adaptation of waterborne echovirus to warm habitats enhances disinfection resistance

Tamar Kohn, Anna Carratala Ripolles, Virginie Bachmann

Because of their high mutation rate, enteric virus populations excreted from a host are not clonal, but rather consist of a mutant cloud with many different genetic variants. Among these variants, the susceptibility to environmental stressors (e.g., temper ...

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

New approaches for track reconstruction in LHCb's Vertex Locator

Victor Coco, Sébastien Ponce

Starting with Upgrade 1 in 2021, LHCb will move to a purely software-based trigger system. Therefore, the new trigger strategy is to process events at the full rate of 30MHz. Given that the increase of CPU performance has slowed down in recent years, the p ...

E D P SCIENCES2019

The fitness landscape of the codon space across environments

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski

Fitness landscapes map the relationship between genotypes and fitness. However, most fitness landscape studies ignore the genetic architecture imposed by the codon table and thereby neglect the potential role of synonymous mutations. To quantify the fitnes ...

NATURE PUBLISHING GROUP2018

CRX-linked macular dystrophy with intrafamilial variable expressivity

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. Case report: A 21 year old Caucasian male from a Swiss family was investigated for decreasing central visual acuity asso ...

TAYLOR & FRANCIS INC2018

Likelihood-free Inference of Population Genetic Parameters from Time-Sampled Genetic Data

Hyunjin Shim

This thesis consists of five papers published in peer-reviewed journals, two of which focus on method development of time-serial inference, represented by publications in methodology journals, and three others that describe collaborative data applications ...

EPFL2018

Organoid Profiling Identifies Common Responders to Chemotherapy in Pancreatic Cancer

Candice Megan T Young

Pancreatic cancer is the most lethal common solid malignancy. Systemic therapies are often ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated a pancreatic cancer patient-derived organoid (PDO) library that recapitul ...

2018

Cryo-EM structure of alpha-synuclein fibrils

Henning Paul-Julius Stahlberg, Ricardo Cesar Guerrero Ferreira

Parkinson's disease is a progressive neuropathological disorder that belongs to the class of synucleinopathies, in which the protein alpha-synuclein is found at abnormally high concentrations in affected neurons. Its hallmark are intracellular inclusions c ...

eLife Sciences Publications, Ltd2018

Inferring the age and strength of mutations evolving under positive selection

Nicky Louise Ormond

A fundamental goal of population genetics is to determine and quantify the interplay of mutation, natural selection, genetic drift and migration in shaping allelic frequency changes that underpin evolution-ary change. In this dissertation, I present comput ...

EPFL2017

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