[HTML][HTML] Functional characterization of the TERRA transcriptome at damaged telomeres

A Porro, S Feuerhahn, J Delafontaine… - Nature …, 2014 - nature.com
Telomere deprotection occurs during tumorigenesis and aging upon telomere shortening or
loss of the telomeric shelterin component TRF2. Deprotected telomeres undergo changes in …

Quantifying ChIP-seq data: a spiking method providing an internal reference for sample-to-sample normalization

…, R Liechti, O Martin, J Delafontaine… - Genome …, 2014 - genome.cshlp.org
Chromatin immunoprecipitation followed by deep sequencing (ChIP-seq) experiments are
widely used to determine, within entire genomes, the occupancy sites of any protein of interest…

[HTML][HTML] HTSstation: a web application and open-access libraries for high-throughput sequencing data analysis

FPA David, J Delafontaine, S Carat, FJ Ross… - PloS one, 2014 - journals.plos.org
The HTSstation analysis portal is a suite of simple web forms coupled to modular analysis
pipelines for various applications of High-Throughput Sequencing including ChIP-seq, RNA-…

[PDF][PDF] KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

…, L Ambrozaityte, L Cimbalistienė, J Delafontaine… - The American Journal of …, 2018 - cell.com
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with
overlapping clinical manifestations identified loss-of-function and missense variants in …

[PDF][PDF] Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

…, GM Cooper, T Courtin, E Dadali, J Delafontaine… - The American Journal of …, 2021 - cell.com
The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

Varapp: a reactive web-application for variants filtering

J Delafontaine, A Masselot, R Liechti, D Kuznetsov… - bioRxiv, 2016 - biorxiv.org
Varapp is an open-source web application to filter variants from large sets of exome data
stored in a relational database. Varapp offers a reactive graphical user interface, very fast data …

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

…, N Chatron, GM Cooper, E Dadali, J Delafontaine… - bioRxiv, 2019 - biorxiv.org
The ALF transcription factor paralogs, AFF1, AFF2, AFF3 and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

…, CF Wright, A Putoux, L Cimbalistienė, J Delafontaine… - 2017 - dr.ntu.edu.sg
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with
overlapping clinical manifestations identified loss-of-function and missense variants in …

A RESTful API to serve BAM file with OAuth2 compatible authorization

J Delafontaine, S Pradervand - bioRxiv, 2017 - biorxiv.org
Bam-server is an open-source RESTful service to query slices of BAM files securely and
manage their user accesses. A typical use case is the visualization of local read alignments in a …

[CITATION][C] Thomas Kuhn

J DELAFONTAINE - 2010 - infoscience.epfl.ch
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