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Works (14)

Alternative splicing is coupled to gene expression in a subset of variably expressed genes.

NPJ Genomic Medicine
2024 | Journal article
Part of ISSN:

NPJ_GENOM_MED

Contributors: Karlebach G; Steinhaus R; Danis D; Maeva Devoucoux; Anczuków O; Gloria Sheynkman; Seelow D; Peter N Robinson
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FACTScience - Charité Universitätsmedizin Berlin

The Human Phenotype Ontology in 2024: phenotypes around the world.

Nucleic Acids Research
2024 | Journal article
Part of ISSN: 1362-4962
Contributors: Michael A Gargano; Nicolas Matentzoglu; Ben Coleman; Addo-Lartey EB; Anna V. Anagnostopoulos; Anderton J; Paul Avillach; Anita Bagley; Eduard Bakštein; James P. Balhoff et al.
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FACTScience - Charité Universitätsmedizin Berlin

Using paired-end read orientations to assess technical biases in capture Hi-C

NAR Genomics and Bioinformatics
2024-09-28 | Journal article
Contributors: Peter Hansen; Hannah Blau; Jochen Hecht; Guy Karlebach; Alexander Krannich; Robin Steinhaus; Matthias Truss; Peter N Robinson
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Crossref

Drawing human pedigree charts with DrawPed

Nucleic Acids Research
2024-07-05 | Journal article
Contributors: Janina Schönberger; Robin Steinhaus; Dominik Seelow
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Crossref

GA4GH Phenopackets: A Practical Introduction.

Advanced Genetics
2023 | Journal article
Part of ISSN: 2641-6573
Contributors: Ladewig MS; Jacobsen JOB; Wagner AH; Danis D; El Kassaby B; Gargano M; Groza T; Baudis M; Steinhaus R; Seelow D et al.
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FACTScience - Charité Universitätsmedizin Berlin

The GA4GH Phenopacket schema defines a computable representation of clinical data.

Nature Biotechnology
2022 | Journal article | Author
Part of ISSN: 1546-1696
Contributors: Julius O. B. Jacobsen; Baudis M; Gareth Baynam; Jacques S Beckmann; Beltran S; Buske OJ; Callahan TJ; Christopher G Chute; Mélanie Courtot; Daniel Danis et al.
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FACTScience - Charité Universitätsmedizin Berlin

AutozygosityMapper: Identification of disease-mutations in consanguineous families

Nucleic Acids Research
2022-07-05 | Journal article
Contributors: Robin Steinhaus; Felix Boschann; Melanie Vogel; Björn Fischer-Zirnsak; Dominik Seelow
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Crossref

Deep phenotyping: symptom annotation made simple with SAMS

Nucleic Acids Research
2022-07-05 | Journal article
Contributors: Robin Steinhaus; Sebastian Proft; Evelyn Seelow; Tobias Schalau; Peter N Robinson; Dominik Seelow
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Crossref

FABIAN-variant: predicting the effects of DNA variants on transcription factor binding

Nucleic Acids Research
2022-07-05 | Journal article
Contributors: Robin Steinhaus; Peter N Robinson; Dominik Seelow
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Crossref

Aviator: a web service for monitoring the availability of web services

Nucleic Acids Research
2021-07-02 | Journal article
Contributors: Tobias Fehlmann; Fabian Kern; Pascal Hirsch; Robin Steinhaus; Dominik Seelow; Andreas Keller
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Crossref

MutationTaster2021

Nucleic Acids Research
2021-07-02 | Journal article
Contributors: Robin Steinhaus; Sebastian Proft; Markus Schuelke; David N Cooper; Jana Marie Schwarz; Dominik Seelow
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Crossref

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis.

Genome Biology
2020 | Journal article
Part of ISSN: 1465-6906
Contributors: Karlebach G; Hansen P; Veiga DF; Steinhaus R; Danis D; Li S; Anczukow O; Peter N Robinson
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FACTScience - Charité Universitätsmedizin Berlin

Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers

Nucleic Acids Research
2020-06-04 | Journal article
Contributors: Robin Steinhaus; Tonatiuh Gonzalez; Dominik Seelow; Peter N Robinson
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Crossref

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

BMC Genomics
2019-12 | Journal article
Part of ISSN: 1471-2164
Source: Self-asserted source
Robin Steinhaus