Emmanuèle Délot

8PUBLICATIONS
68CO-AUTHORS
Data qualityGeoscience data visualisationCancer geneticsGene expression (incl. microarray and other genome-wide approaches)Gene mapping
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Publications (8)

|Jun 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|Nov 19, 2025
Rapid, accurate long- and short-read mapping to large pangenome graphs with vg Giraffe.

Xian Chang, Adam M Novak, Jordan M Eizenga

|Feb 24, 2025
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.

Jean Monlong, Xiao Chen, Hayk Barseghyan

|Jan 07, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Georgia Pitsava, Megan Hawley, Light Auriga

|Sep 04, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

Shloka Negi, Sarah L Stenton, Seth I Berger

|Jun 04, 2021
Towards improved genetic diagnosis of human differences of sex development.

Emmanuèle C Délot, Eric Vilain

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Frequent Collaborators

5 joint publications

Eric Vilain

4 joint publications

Seth I Berger

3 joint publications

Benedict Paten

3 joint publications

Jean Monlong