Author

Andreas Traschütz

German Center for Neurodegenerative Diseases

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

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Adam JacksoniD· 1 shared Alberto Corvo· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Anastasios PapakonstantinouiD· 1 shared Ange‐Line BrueliD· 1 shared Anna Esteve‐CodinaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared

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1 shared paperGenetic & Genomic Medicine

Adam JacksonORCID

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1 paper

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedOct 26, 2024

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez…·Emanuele Raineri

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

9 citations

humanwhole-exome sequencing

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