Concept

Sanger sequencing

Publications associées (244)

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis

Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...

Georg Thieme Verlag Kg2016

Screening of structurally diverse bicyclic peptide libraries by phage display

Davide Bertoldo

Bicyclic peptides are an attractive molecule format for the development of therapeutics and research tools. Our laboratory is specialized on the development of bicyclic peptide ligands by phage display. In brief, libraries of randompeptides each containing ...

EPFL2016

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...

Oxford University Press2016

Host and pathogen genomics of severe pediatric infections

Samira Asgari

Infectious diseases are among the leading causes of human morbidity and mortality, with the greatest burden felt in the pediatric population. For any infectious disease, only a fraction of the exposed individuals develop clinical symptoms. These inter-indi ...

EPFL2016

An Evaluation Framework for Lossy Compression of Genome Sequencing Quality Values

Marco Mattavelli, Claudio Paolo Alberti, Ana Angelica Hernandez Lopez

This paper provides the specification and an initial validation of an evaluation framework for the comparison of lossy compressors of genome sequencing quality values. The goal is to define reference data, test sets, tools and metrics that shall be used to ...

Ieee2016

An Approximate Markov Model for the Wright-Fisher Diffusion and Its Application to Time Series Data

Jeffrey David Jensen, Anna Ferrer Admetlla

The joint and accurate inference of selection and demography from genetic data is considered a particularly challenging question in population genetics, since both process may lead to very similar patterns of genetic diversity. However, additional informat ...

Genetics Society America2016

A Statistical Guide to the Design of Deep Mutational Scanning Experiments

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski

The characterization of the distribution of mutational effects is a key goal in evolutionary biology. Recently developed deep-sequencing approaches allow for accurate and simultaneous estimation of the fitness effects of hundreds of engineered mutations by ...

Genetics Society America2016

Multi-resistance of human enterovirus to UV-C disinfection and mutagenic nucleoside analogs

Tamar Kohn, Anna Carratala Ripolles, Virginie Bachmann, Qingxia Zhong

Disinfection is an important strategy to control the environmental transmission of human viruses. Specifically, UV254 is increasingly used to disinfect from clinical items or surfaces to drinking water. RNA virus populations have high mutation rates and la ...

2016

On the (un) predictability of a large intragenic fitness landscape

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski

The study of fitness landscapes, which aims at mapping genotypes to fitness, is receiving ever-increasing attention. Novel experimental approaches combined with next-generation sequencing (NGS) methods enable accurate and extensive studies of the fitness e ...

Natl Acad Sciences2016

Identification and Characterization of Tyrosine Kinase Nonreceptor 2 Mutations in Leukemia through Integration of Kinase Inhibitor Screening and Genomic Analysis

Oliver Hantschel, Sina Maren Reckel

The amount of genomic information about leukemia cells currently far exceeds our overall understanding of the precise genetic events that ultimately drive disease development and progression. Effective implementation of personalized medicine will require t ...

American Association for Cancer Research2016

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