<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways.</style>

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<style face="normal" font="default" size="100%">The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.</style>

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<style face="normal" font="default" size="100%">SMN1 copy-number and sequence variant analysis from next-generation sequencing data.</style>

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<style face="normal" font="default" size="100%">ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data.</style>

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<style face="normal" font="default" size="100%">VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy.</style>

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<style face="normal" font="default" size="100%">Highly sensitive and ultrafast read mapping for RNA-seq analysis.</style>

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<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>

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<style face="normal" font="default" size="100%">Integrated gene set analysis for microRNA studies.</style>

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<style face="normal" font="default" size="100%">Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.</style>

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<style face="normal" font="default" size="100%">Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.</style>

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<style face="normal" font="default" size="100%">Fast inexact mapping using advanced tree exploration on backward search methods.</style>

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<style face="normal" font="default" size="100%">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.</style>

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<style face="normal" font="default" size="100%">ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.</style>

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<style face="normal" font="default" size="100%">Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.</style>

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<style face="normal" font="default" size="100%">VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.</style>

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<style face="normal" font="default" size="100%">Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.</style>