Evidence map›Paper›PMID 30815196›Full record

ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2018

Incorporating Knowledge-Driven Insights into a Collaborative Filtering Model to Facilitate the Differential Diagnosis of Rare Diseases.

Feichen Shen, Hongfang Liu

Abstract read
In one paragraph

Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023
    Article
  2. Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.International journal of environmental research and public health · 2022
    Article
  3. Article
  4. Improving rare disease classification using imperfect knowledge graph.BMC medical informatics and decision making · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Feichen ShenDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Hongfang LiuDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Funding

Open Health Natural Language Processing CollaboratoryU01TR002062 · NCATS · MAYO CLINIC ROCHESTER · PI JIANG, XIAOQIAN, LIU, HONGFANG · 2017 to 2021
$7.6M
Biomedical Data Translator Technical Feasibility Assessment and Architecture DesignOT3TR002019 · NCATS · JOHNS HOPKINS UNIVERSITY · PI CHUTE, CHRISTOPHER G, HAENDEL, MELISSA A · 2016 to 2019
$5.7M
Semi-structured Information Retrieval in Clinical Text for Cohort IdentificationR01LM011934 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI HERSH, WILLIAM R, LIU, HONGFANG · 2014 to 2025
$5.1M
Secondary use of EMRs for surgical complication surveillanceR01EB019403 · NIBIB · MAYO CLINIC ROCHESTER · PI LIU, HONGFANG, STORLIE, CURTIS · 2015 to 2022
$3.8M
Natural language processing for clinical and translational researchR01GM102282 · NIGMS · MAYO CLINIC ROCHESTER · PI LIU, HONGFANG, PAKHOMOV, SERGUEI VS · 2013 to 2016
$2.5M
NCATS NIH HHS OT3 TR002019NCATS NIH HHS U01 TR002062NIBIB NIH HHS R01 EB019403NIGMS NIH HHS R01 GM102282NLM NIH HHS R01 LM011934
6 · The paper itself

Abstract

Rare diseases, although individually rare, collectively affect one in ten Americans. Because of their rarity, patients with rare diseases are typically left misdiagnosed or undiagnosed, which leads to a prolonged medical journey. The diagnosis pathway of a rare disease is highly dependent on the associated clinical phenotypes, i.e., the observable characteristics, at the physical, morphologic, or biochemical level, of an individual. In our previous study, we applied a collaborative filtering model on clinical data generated at Mayo Clinic to stratify patients into subgroups of rare diseases. Information mined from clinical data, however, usually contains a certain level of noise, such as occurrences of comorbidities, which could impact the accuracy of differential diagnosis. In this study, we sought to incorporate a knowledge-driven approach into collaborative filtering to optimize results learned from clinical data. Our results demonstrated an improvement in performance over pure data-driven approaches with the potential to facilitate the differential diagnosis of rare diseases.

Indexed as

AlgorithmsBiological OntologiesDiagnosis, DifferentialKnowledge DiscoveryData CollectionHumansKnowledge BasesRare DiseasesStatistics as TopicSystematized Nomenclature of Medicine

Identifiers

PMID30815196
PMCPMC6371266

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.