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jmargareto - genetic diagnosis
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genetic diagnosis
Tecnalia • Donostia / San Sebasti├ín • Spain

Skills and expertise

Fields of interest
  • WGS analysis
  • WES analysis
  • Metagenomic sequencing analysis
  • Spanish

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Fields of interest

WGS analysis
Allows users to preserve the inter-position dependencies and includes the…
Detects data linkage errors and family relations in large-scale multiple omics…
Simplifies downstream utilization of high-throughput sequencing (HTS) data.…
WES analysis
Prioritizes disease genes for all phenotypes. IDPL aims to relieve the bias…
Simulates different types of substitutions. MultinomialMutations integrates the…
Enables users to fix drivers based on various mapping criteria and stringency.…
Metagenomic sequencing analysis
Provides a collection of open-source tools and resources for modelling,…
Incorporates tools and workflows for the analysis of environmental DNA (eDNA)…
Determines bacterial plasmid sequences in genomic and metagenomic assemblies.…