Mélanie Tanguy

3PUBLICATIONS
18CO-AUTHORS
GenomicsNeurology and neuromuscular diseases
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Publications (3)

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|May 28, 2025
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.

Hillary Elrick, Carolin M Sauer, Jose Espejo Valle-Inclan

|Jul 27, 2024
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Yang Pei, Melanie Tanguy, Adam Giess

|Nov 18, 2023
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue.

Julia Oakley, Martin Hill, Adam Giess

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Frequent Collaborators

2 joint publications

Greg Elgar

1 joint publications

Julia Oakley

1 joint publications

Martin Hill

1 joint publications

Adam Giess

1 joint publications

Yang Pei

1 joint publications

Louise C Wilson

1 joint publications

Andrew O M Wilkie

1 joint publications

Hillary Elrick

1 joint publications

Carolin M Sauer

1 joint publications

Jose Espejo Valle-Inclan

Frequent Collaborators

2 joint publications

Greg Elgar

1 joint publications

Julia Oakley

1 joint publications

Martin Hill

1 joint publications

Adam Giess

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