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Works (36)

Efficient reinterpretation of rare disease cases using Exomiser

npj Genomic Medicine
2024-12-18 | Journal article
Contributors: Letizia Vestito; Julius O. B. Jacobsen; Susan Walker; Valentina Cipriani; Nomi L. Harris; Melissa A. Haendel; Christopher J. Mungall; Peter Robinson; Damian Smedley
Source: check_circle
Crossref

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis
2024-04 | Journal article
Contributors: Michael H. Duyzend; Pilar Cacheiro; Julius O. B. Jacobsen; Jessica Giordano; Harrison Brand; Ronald J. Wapner; Michael E. Talkowski; Peter N. Robinson; Damian Smedley
Source: check_circle
Crossref

Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data

Data
2024-04 | Journal article | Author
Contributors: Anando Sen; Victoria Hedley; Eva Degraeuwe; Steven Hirschfeld; Ronald Cornet; Ramona Walls; John Owen; Peter N Robinson; Edward Neilan; Thomas Liener et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute

Phenopacket-tools: Building and validating GA4GH Phenopackets

PLOS ONE
2023-05-17 | Journal article
Contributors: Daniel Danis; Stephen R. Piccolo; Julius O. B. Jacobsen; Alex H. Wagner; Tudor Groza; Martha A. Beckwith; Lauren Rekerle; Leigh C. Carmody; Justin Reese; Harshad Hegde et al.
Source: check_circle
Crossref

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Briefings in Bioinformatics
2022-09-20 | Journal article
Part of ISSN: 1467-5463
Part of ISSN: 1477-4054
Contributors: Julius O B Jacobsen; Catherine Kelly; Valentina Cipriani; Peter N Robinson; Damian Smedley
Source: Self-asserted source
Julius O. B. Jacobsen

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Human Mutation
2022-08 | Journal article
Part of ISSN: 1059-7794
Part of ISSN: 1098-1004
Contributors: Julius O. B. Jacobsen; Catherine Kelly; Valentina Cipriani; Genomics England Research Consortium; Christopher J. Mungall; Justin Reese; Daniel Danis; Peter N Robinson; Damian Smedley; Julius O. B. Jacobsen
Source: Self-asserted source
Julius O. B. Jacobsen

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology
2022-06 | Journal article
Contributors: Julius O. B. Jacobsen; Michael Baudis; Gareth S. Baynam; Jacques S. Beckmann; Sergi Beltran; Orion J. Buske; Tiffany J. Callahan; Christopher G. Chute; Mélanie Courtot; Daniel Danis et al.
Source: check_circle
Crossref

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

2021-11-30 | Other
Contributors: Julius O. B. Jacobsen; Michael Baudis; Gareth S. Baynam; Jacques S. Beckmann; Sergi Beltran; Tiffany J. Callahan; Christopher G. Chute; Mélanie Courtot; Daniel Danis; Olivier Elemento et al.
Source: check_circle
Crossref

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

New England Journal of Medicine
2021-11-11 | Journal article
Part of ISSN: 0028-4793
Part of ISSN: 1533-4406
Source: Self-asserted source
Julius O. B. Jacobsen

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

2021-01-28 | Preprint
Contributors: Daniel Danis; Julius O.B. Jacobsen; Leigh Carmody; Michael Gargano; Julie A McMurry; Ayushi Hegde; Melissa A Haendel; Giorgio Valentini; Damian Smedley; Peter N Robinson
Source: check_circle
Crossref

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Genes
2020-04-23 | Journal article
Part of ISSN: 2073-4425
Source: Self-asserted source
Julius O. B. Jacobsen

Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

Nature communications
2018-01 | Journal article
Contributors: Rozman J; Rathkolb B; Oestereicher MA; Schütt C; Ravindranath AC; Leuchtenberger S; Sharma S; Kistler M; Willershäuser M; Brommage R et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Matchmaker Exchange.

Current protocols in human genetics
2017-10 | Journal article
Contributors: Sobreira NLM; Arachchi H; Buske OJ; Chong JX; Hutton B; Foreman J; Schiettecatte F; Groza T; Jacobsen JOB; Haendel MA et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

Nature genetics
2017-08 | Journal article
Contributors: Meehan TF; Conte N; West DB; Jacobsen JO; Mason J; Warren J; Chen CK; Tudose I; Relac M; Matthews P et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

2017-03 | Journal article
Contributors: Pontikos N; Yu J; Moghul I; Withington L; Blanco-Kelly F; Vulliamy T; Wong TL; Murphy C; Cipriani V; Fiorentino A et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The Human Phenotype Ontology in 2017.

2017-01 | Journal article
Contributors: Köhler S; Vasilevsky NA; Engelstad M; Foster E; McMurry J; Aymé S; Baynam G; Bello SM; Boerkoel CF; Boycott KM et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.

2017-01 | Journal article
Contributors: Mungall CJ; McMurry JA; Köhler S; Balhoff JP; Borromeo C; Brush M; Carbon S; Conlin T; Dunn N; Engelstad M et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

2016-09 | Journal article
Contributors: Smedley D; Schubach M; Jacobsen JO; Köhler S; Zemojtel T; Spielmann M; Jäger M; Hochheiser H; Washington NL; McMurry JA et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Navigating the Phenotype Frontier: The Monarch Initiative.

2016-08 | Journal article
Contributors: McMurry JA; Köhler S; Washington NL; Balhoff JP; Borromeo C; Brush M; Carbon S; Conlin T; Dunn N; Engelstad M et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

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

Nature Protocols
2015-12-12 | Journal article
Contributors: Damian Smedley; Julius O B Jacobsen; Marten Jäger; Sebastian Köhler; Manuel Holtgrewe; Max Schubach; Enrico Siragusa; Tomasz Zemojtel; Orion J Buske; Nicole L Washington et al.
Source: check_circle
Crossref

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

2015-11 | Journal article
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
Julius O. B. Jacobsen via Europe PubMed Central

A mouse informatics platform for phenotypic and translational discovery.

2015-10 | Journal article
Contributors: Ring N; Meehan TF; Blake A; Brown J; Chen CK; Conte N; Di Fenza A; Fiegel T; Horner N; Jacobsen JO et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Disease insights through cross-species phenotype comparisons.

2015-10 | Journal article
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
Julius O. B. Jacobsen via Europe PubMed Central

Applying the ARRIVE Guidelines to an In Vivo Database.

2015-05 | Journal article
Contributors: Karp NA; Meehan TF; Morgan H; Mason JC; Blake A; Kurbatova N; Smedley D; Jacobsen J; Mott RF; Iyer V et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Use of animal models for exome prioritization of rare disease genes.

2014 | Journal article
PMC:

PMC4249606

Contributors: Smedley D; Kohler S; Bone W; Oellrich A; Jacobsen J; Wang K; Mungall C; Washington N; Bauer S; Seelow D et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Using association rule mining to determine promising secondary phenotyping hypotheses.

2014-06 | Journal article
DOI:

10.1093/bioinformatics/btu260

PMID:

24932005

PMC:

PMC4059059

Contributors: Oellrich A; Jacobsen J; Papatheodorou I; Sanger Mouse Genetics Project; Smedley D
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes.

2014-01 | Journal article
DOI:

10.1093/nar/gkt1243

PMID:

24319146

PMC:

PMC3964973

Contributors: Furnham N; Holliday GL; de Beer TA; Jacobsen JO; Pearson WR; Thornton JM
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

SIFTS: Structure Integration with Function, Taxonomy and Sequences resource.

2013-01 | Journal article
DOI:

10.1093/nar/gks1258

PMID:

23203869

PMC:

PMC3531078

Contributors: Velankar S; Dana JM; Jacobsen J; van Ginkel G; Gane PJ; Luo J; Oldfield TJ; O'Donovan C; Martin MJ; Kleywegt GJ
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The EBI enzyme portal.

2013-01 | Journal article
DOI:

10.1093/nar/gks1112

PMID:

23175605

PMC:

PMC3531056

Contributors: Alcántara R; Onwubiko J; Cao H; Matos Pd; Cham JA; Jacobsen J; Holliday GL; Fischer JD; Rahman SA; Jassal B et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

BioJava: an open-source framework for bioinformatics in 2012.

2012-10 | Journal article
DOI:

10.1093/bioinformatics/bts494

PMID:

22877863

PMC:

PMC3467744

Contributors: Prlić A; Yates A; Bliven SE; Rose PW; Jacobsen J; Troshin PV; Chapman M; Gao J; Koh CH; Foisy S et al.
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Reorganizing the protein space at the Universal Protein Resource (UniProt).

2012-01 | Journal article
DOI:

10.1093/nar/gkr981

PMID:

22102590

PMC:

PMC3245120

Contributors: UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

UniProt Knowledgebase: a hub of integrated protein data.

Database : the journal of biological databases and curation
2011 | Journal article
Contributors: Magrane M; UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

Ongoing and future developments at the Universal Protein Resource.

2011-01 | Journal article
DOI:

10.1093/nar/gkq1020

PMID:

21051339

PMC:

PMC3013648

Contributors: UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

From protein sequences to 3D-structures and beyond: the example of the UniProt knowledgebase.

2010-04 | Journal article
DOI:

10.1007/s00018-009-0229-6

PMID:

20043185

PMC:

PMC2835715

Contributors: Hinz U; UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The Universal Protein Resource (UniProt) in 2010.

2010-01 | Journal article
DOI:

10.1093/nar/gkp846

PMID:

19843607

PMC:

PMC2808944

Contributors: UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central

The Universal Protein Resource (UniProt) 2009.

2009-01 | Journal article
DOI:

10.1093/nar/gkn664

PMID:

18836194

PMC:

PMC2686606

Contributors: UniProt Consortium
Source: Self-asserted source
Julius O. B. Jacobsen via Europe PubMed Central