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Other IDs

Scopus Author ID: 23980415100
ResearcherID: A-2029-2012

Keywords

ontology, human phenotype, semantic web, machine learning, digital health, interoperability

Activities

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Employment (10)

Ada Health: Berlin, DE

2019-11-01 to present | Information Architect
Employment
Source: Self-asserted source
Sebastian Köhler

Einstein Center Digital Future: Berlin, Berlin, DE

2018-06 to present
Employment
Source: Self-asserted source
Sebastian Köhler

Charité Universitätsmedizin Berlin: Berlin, Berlin, DE

2018-06-01 to present | Juniorprofessor for methods for digital phenotyping
Employment
Source: Self-asserted source
Sebastian Köhler

Berlin Institute of Health: Berlin, DE

2018-06 to present
Employment
Source: Self-asserted source
Sebastian Köhler

Charité Universitätsmedizin Berlin NeuroCure Klinisches Forschungszentrum: Berlin, Berlin, DE

2017-01 to 2018-05 | Bioinformatics researcher
Employment
Source: Self-asserted source
Sebastian Köhler

Charité Universitätsmedizin Berlin Institut für Medizinische Genetik und Humangenetik: Berlin, Berlin, DE

2012 to 2016 | Bioinformatics / PostDoc
Employment
Source: Self-asserted source
Sebastian Köhler

Charité Universitätsmedizin Berlin Institut für Medizinische Genetik und Humangenetik: Berlin, Berlin, DE

2007 to 2012 | Bioinformatics PhD student
Employment
Source: Self-asserted source
Sebastian Köhler

Universidade de Lisboa Faculdade de Ciências: Lisboa, Lisboa, PT

2010-04 to 2010-09
Employment
Source: Self-asserted source
Sebastian Köhler

RZPD Deutsche Ressourcenzentrum für Genomforschung GmbH: Berlin, Berlin, DE

2005 to 2006 | Student
Employment
Source: Self-asserted source
Sebastian Köhler

Max Delbrück Centrum für Molekulare Medizin Berlin Buch: Berlin-Buch, Berlin, DE

2004 to 2004 | Student
Employment
Source: Self-asserted source
Sebastian Köhler

Education and qualifications (1)

Freie Universität Berlin: Berlin, Berlin, DE

2001 to 2007 | PhD, MSc, BSc Bioinformatics (Bioinformatics / Math / CS)
Education
Source: Self-asserted source
Sebastian Köhler

Funding (3)

European Joint Programme for Rare Diseases

2019-01 to 2024-12 | Grant
European Commission (Brussels, BE)
Part of GRANT_NUMBER: 825575
Source: Self-asserted source
Sebastian Köhler

Solve-RD

2018-01 to 2022-12 | Grant
European Commission (Brussels, BE)
GRANT_NUMBER: 779257
Source: Self-asserted source
Sebastian Köhler

Harmonising phenomics information for a better interoperability in the RD field

Grant
European Commission (Brussels, BE)
GRANT_NUMBER: 643578
Source: Self-asserted source
Sebastian Köhler

Works (50 of 53)

Items per page:
Page 1 of 2

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Current Protocols in Human Genetics
2019-09 | Journal article
DOI: 10.1002/cphg.92
Part of ISSN: 1934-8266
Part of ISSN: 1934-8258
Source: Self-asserted source
Sebastian Köhler

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Nucleic Acids Research
2019-07-02 | Journal article
DOI: 10.1093/nar/gkz327
Contributors: Jana Marie Schwarz; Daniela Hombach; Sebastian Köhler; David N Cooper; Markus Schuelke; Dominik Seelow
Source: check_circle
Crossref

Phenotero: Annotate as you write

Clinical Genetics
2019-02 | Journal article
DOI: 10.1111/cge.13471
Contributors: Daniela Hombach; Jana M. Schwarz; Ellen Knierim; Markus Schuelke; Dominik Seelow; Sebastian Köhler
Source: check_circle
Crossref

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Nucleic Acids Research
2019-01-08 | Journal article
DOI: 10.1093/nar/gky1105
Contributors: Sebastian Köhler; Leigh Carmody; Nicole Vasilevsky; Julius O B Jacobsen; Daniel Danis; Jean-Philippe Gourdine; Michael Gargano; Nomi L Harris; Nicolas Matentzoglu; Julie A McMurry et al.
Source: check_circle
Crossref

Improved ontology-based similarity calculations using a study-wise annotation model.

Database: The Journal of Biological Databases and Curation
2018 | Journal article
PMC: PMC5868182
Contributors: Köhler S
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Harmonising phenomics information for a better interoperability in the rare disease field

European Journal of Medical Genetics
2018-11 | Journal article
DOI: 10.1016/j.ejmg.2018.01.013
Contributors: Sylvie Maiella; Annie Olry; Marc Hanauer; Valérie Lanneau; Halima Lourghi; Bruno Donadille; Charlotte Rodwell; Sebastian Köhler; Dominik Seelow; Simon Jupp et al.
Source: check_circle
Crossref

Phenotero: annotate as you write

2018-05-16 | Other
DOI: 10.1101/324053
Contributors: Daniela Hombach; Jana Marie Schwarz; Ellen Knierim; Markus Schuelke; Dominik Seelow; Sebastian Köhler
Source: check_circle
Crossref

Plain-language medical vocabulary for precision diagnosis.

Nature genetics
2018-04 | Journal article
DOI: 10.1038/s41588-018-0096-x
PMID: 29632381
Contributors: Vasilevsky NA; Foster ED; Engelstad ME; Carmody L; Might M; Chambers C; Dawkins HJS; Lewis J; Della Rocca MG; Snyder M et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Genome medicine
2018-01 | Journal article
DOI: 10.1186/s13073-017-0510-5
PMID: 29310717
PMC: PMC5759841
Contributors: Knaus A; Pantel JT; Pendziwiat M; Hajjir N; Zhao M; Hsieh TC; Schubach M; Gurovich Y; Fleischer N; Jäger M et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Improved ontology-based similarity calculations using a study-wise annotation model.

Database : the journal of biological databases and curation
2018-01 | Journal article
DOI: 10.1093/database/bay026
PMID: 29688377
Contributors: Köhler S
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Ontology-based similarity calculations with an improved annotation model

2017-10-06 | Preprint
DOI: 10.1101/199554
Contributors: Sebastian Köhler
Source: check_circle
Crossref

[Diagnostics in human genetics : Integration of phenotypic and genomic data].

2017-03 | Journal article
DOI: 10.1007/s00103-017-2538-5
PMID: 28293716
Contributors: Köhler S; Robinson PN
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

“Opposite-of”-information improves similarity calculations in phenotype ontologies

2017-02-16 | Preprint
DOI: 10.1101/108977
Contributors: Sebastian Köohler; Peter N Robinson; Christopher J Mungall
Source: check_circle
Crossref

The Monarch Initiative: Insights across species reveal human disease mechanisms

2016-11-03 | Other
DOI: 10.1101/055756
Contributors: Christopher Mungall; Julie McMurry; Sebastian Koehler; James Balhoff; Charles Borromeo; Matthew Brush; Seth Carbon; TOM CONLIN; Nathan Dunn; Mark Engelstad et al.
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

Navigating the Phenotype Frontier: The Monarch Initiative

Genetics
2016-08 | Journal article
DOI: 10.1534/genetics.116.188870
Contributors: Julie A. McMurry; Sebastian Köhler; Nicole L. Washington; James P. Balhoff; Charles Borromeo; Matthew Brush; Seth Carbon; Tom Conlin; Nathan Dunn; Mark Engelstad et al.
Source: check_circle
Crossref

Navigating the phenotype frontier: The Monarch Initiative

2016-06 | Other
DOI: 10.1101/059204
Contributors: Julie McMurry; Sebastian Kohler; James Balhoff; Charles Borromeo; Matthew Brush; Seth Carbon; Tom Conlin; Nathan Dunn; Mark Engelstad; Erin Foster et al.
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search
grade
Preferred source (of 2)‎

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction

2016-04 | Other
DOI: 10.1101/048843
Contributors: Christopher J Mungall; Sebastian Koehler; Peter Robinson; Ian Holmes; Melissa Haendel
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

A Hierarchical Ensemble Method for DAG-Structured Taxonomies

Multiple Classifier Systems
2015 | Other
DOI: 10.1007/978-3-319-20248-8_2
Contributors: Peter N. Robinson; Marco Frasca; Sebastian Köhler; Marco Notaro; Matteo Re; Giorgio Valentini
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

2015 | Journal article
DOI:

10.1093/database/bav005

PMID:

25725061

PMC:

PMC4343077
Contributors: Groza T; Köhler S; Doelken S; Collier N; Oellrich A; Smedley D; Couto FM; Baynam G; Zankl A; Robinson PN
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology

Bioinformatics and Biomedical Engineering
2015 | Other
DOI: 10.1007/978-3-319-16483-0_7
Contributors: Giorgio Valentini; Sebastian Köhler; Matteo Re; Marco Notaro; Peter N. Robinson
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

Next-generation diagnostics and disease-gene discovery with the Exomiser.

2015-12 | Journal article
DOI: 10.1038/nprot.2015.124
PMID: 26562621
Contributors: Smedley D; Jacobsen JO; Jäger M; Köhler S; Holtgrewe M; Schubach M; Siragusa E; Zemojtel T; Buske OJ; Washington NL et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central
grade
Preferred source (of 2)‎

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

2015-11 | Journal article
PMID: 26562225
Contributors: Bone WP; Washington NL; Buske OJ; Adams DR; Davis J; Draper D; Flynn ED; Girdea M; Godfrey R; Golas G et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Disease insights through cross-species phenotype comparisons.

2015-10 | Journal article
DOI: 10.1007/s00335-015-9577-8
PMID: 26092691
PMC: PMC4602072
Contributors: Haendel MA; Vasilevsky N; Brush M; Hochheiser HS; Jacobsen J; Oellrich A; Mungall CJ; Washington N; Köhler S; Lewis SE et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Use of model organism and disease databases to support matchmaking for human disease gene discovery.

2015-10 | Journal article
DOI: 10.1002/humu.22857
PMID: 26269093
Contributors: Mungall CJ; Washington NL; Nguyen-Xuan J; Condit C; Smedley D; Köhler S; Groza T; Shefchek K; Hochheiser H; Robinson PN et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

2015-07 | Journal article
DOI: 10.1016/j.ajhg.2015.05.020
PMID: 26119816
PMC: PMC4572507
Contributors: Groza T; Köhler S; Moldenhauer D; Vasilevsky N; Baynam G; Zemojtel T; Schriml LM; Kibbe WA; Schofield PN; Beck T et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Finding our way through phenotypes.

2015-01 | Journal article
DOI:

10.1371/journal.pbio.1002033

PMID:

25562316

PMC:

PMC4285398
Contributors: Deans AR; Lewis SE; Huala E; Anzaldo SS; Ashburner M; Balhoff JP; Blackburn DC; Blake JA; Burleigh JG; Chanet B et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

The influence of disease categories on gene candidate predictions from model organism phenotypes

Journal of Biomedical Semantics
2014 | Journal article
DOI: 10.1186/2041-1480-5-s1-s4
Contributors: Anika Oellrich; Sebastian Koehler; Nicole Washington; Chris Mungall; Suzanna Lewis; Melissa Haendel; Peter N Robinson; Damian Smedley; Sanger Mouse Genetic Project
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

Use of animal models for exome prioritization of rare disease genes

Orphanet Journal of Rare Diseases
2014 | Journal article
DOI: 10.1186/1750-1172-9-s1-o19
Contributors: Damian Smedley; Sebastian Kohler; William Bone; Anika Oellrich; Jules Jacobsen; Kai Wang; Chris Mungall; Nicole Washington; Sebastian Bauer; Dominic Seelow et al.
Source: Self-asserted source
Sebastian Köhler via Crossref Metadata Search

Clinical interpretation of CNVs with cross-species phenotype data.

2014-11 | Journal article
DOI:

10.1136/jmedgenet-2014-102633

PMID:

25280750
Contributors: Köhler S; Schoeneberg U; Czeschik JC; Doelken SC; Hehir-Kwa JY; Ibn-Salem J; Mungall CJ; Smedley D; Haendel MA; Robinson PN
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

2014-11 | Journal article
DOI:

10.1093/bioinformatics/btu508

PMID:

25078397

PMC:

PMC4221119
Contributors: Smedley D; Köhler S; Czeschik JC; Amberger J; Bocchini C; Hamosh A; Veldboer J; Zemojtel T; Robinson PN
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

2014-09 | Journal article
DOI:

10.1186/s13059-014-0423-1

PMID:

25315429

PMC:

PMC4180961
Contributors: Ibn-Salem J; Köhler S; Love MI; Chung HR; Huang N; Hurles ME; Haendel M; Washington NL; Smedley D; Mungall CJ et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

2014-09 | Journal article
DOI:

10.1126/scitranslmed.3009262

PMID:

25186178
Contributors: Zemojtel T; Köhler S; Mackenroth L; Jäger M; Hecht J; Krawitz P; Graul-Neumann L; Doelken S; Ehmke N; Spielmann M et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Improved exome prioritization of disease genes through cross-species phenotype comparison.

2014-02 | Journal article
DOI:

10.1101/gr.160325.113

PMID:

24162188

PMC:

PMC3912424
Contributors: Robinson PN; Köhler S; Oellrich A; Sanger Mouse Genetics Project; Wang K; Mungall CJ; Lewis SE; Washington N; Bauer S; Seelow D et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

2014-01 | Journal article
DOI:

10.1093/nar/gkt1026

PMID:

24217912

PMC:

PMC3965098
Contributors: Köhler S; Doelken SC; Mungall CJ; Bauer S; Firth HV; Bailleul-Forestier I; Black GC; Brown DL; Brudno M; Campbell J et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

2013 | Journal article
DOI:

10.12688/f1000research.2-30.v2

PMID:

24358873

PMC:

PMC3799545
Contributors: Köhler S; Doelken SC; Ruef BJ; Bauer S; Washington N; Westerfield M; Gkoutos G; Schofield P; Smedley D; Lewis SE et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

PhenoDigm: analyzing curated annotations to associate animal models with human diseases.

2013 | Journal article
DOI:

10.1093/database/bat025

PMID:

23660285

PMC:

PMC3649640
Contributors: Smedley D; Oellrich A; Köhler S; Ruef B; Sanger Mouse Genetics Project; Westerfield M; Robinson P; Lewis S; Mungall C
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

2013 | Journal article
DOI:

papers://AFC6FEFF-6CC3-4F99-A8C0-3035D9FD2D4A/Paper/p10331

Part of ISSN:

1754-8411
Contributors: Doelken, S. C.
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Phenotype informatics: Network approaches towards understanding the diseasome

2013-05-28 | Supervised student publication | Author
Contributors: Sebastian Köhler
Source: Self-asserted source
Sebastian Köhler

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.

2013-03 | Journal article
DOI:

10.1242/dmm.010322

PMID:

23104991

PMC:

PMC3597018
Contributors: Doelken SC; Köhler S; Mungall CJ; Gkoutos GV; Ruef BJ; Smith C; Smedley D; Bauer S; Klopocki E; Schofield PN et al.
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Bayesian ontology querying for accurate and noise-tolerant semantic searches

Bioinformatics
2012 | Journal article
DOI:

10.1093/bioinformatics/bts471
Source: Self-asserted source
Sebastian Köhler via Scopus - Elsevier

MouseFinder: Candidate Disease Genes from Mouse Phenotype Data

2012 | Journal article
DOI:

10.1002/humu.22051
Contributors: Chen, Chao-Kung
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Ontological phenotype standards for neurogenetics.

2012-09 | Journal article
DOI:

10.1002/humu.22112

PMID:

22573485
Contributors: Köhler S; Doelken SC; Rath A; Aymé S; Robinson PN
Source: Self-asserted source
Sebastian Köhler via Europe PubMed Central

Exact score distribution computation for ontological similarity searches

2011 | Journal article
DOI:

10.1186/1471-2105-12-441
Contributors: Schulz, Marcel H.
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Improving ontologies by automatic reasoning and evaluation of logical definitions

2011 | Journal article
DOI:

10.1186/1471-2105-12-418
Contributors: Koehler, Sebastian
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

2011 | Journal article
DOI:

10.1093/nar/gkq1081
Contributors: Roedelsperger, Christian
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Computational methods for the study of human disease manifestations. The Human Phenotype Ontology

2010 | Journal article
DOI:

10.1007/s11825-010-0215-2
Contributors: Doelken, S. C.
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

2010 | Journal article
DOI:

10.1038/ng.653
Contributors: Krawitz, Peter M.
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

2009 | Journal article
DOI:

10.1016/j.ajhg.2009.09.003
Contributors: Koehler, Sebastian
Source: Self-asserted source
Sebastian Köhler via ResearcherID

Entity/quality-based logical definitions for the human skeletal phenome using PATO

Proceedings of the 31st Annual International Conference of the IEEE Engineering in Medicine and Biology Society: Engineering the Future of Biomedicine, EMBC 2009
2009 | Journal article
DOI:

10.1109/IEMBS.2009.5333362
Source: Self-asserted source
Sebastian Köhler via Scopus - Elsevier

Exact score distribution computation for similarity searches in ontologies

Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
2009 | Journal article
DOI:

10.1007/978-3-642-04241-6_25
Source: Self-asserted source
Sebastian Köhler via Scopus - Elsevier
Items per page:
Page 1 of 2

Peer review (5 reviews for 2 publications/grants)

Review activity for Faculty Opinions (4)
Review activity for Human mutation. (1)
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