Evidence map›Paper›PMID 41028682›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2026

Clinical Variant Databases and Machine Learning Prediction Supporting Genomic Medicine.

Mayumi Kamada, Yosuke Kawai

Abstract read
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In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Mayumi KamadaSchool of Frontier Engineering, Kitasato University, Kanagawa, Japan. kamada.mayumi@kitasato-u.ac.jp.
Yosuke KawaiNational Institute of Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic medicine, which provides diagnosis and treatment decisions based on genomic variations, has been implemented in clinical practice and become more accessible. The clinical interpretation of genomic variations detected through genome analysis is crucial in genomic medicine. Clinical interpretation often utilizes genomic databases and effects predictions by machine learning. However, it has been noted that the genomic data accumulated thus far exhibit biases toward certain ethnic groups, leading to efforts to enhance genomic data diversity across various regions. While diverse and highly accurate machine learning methods have been developed for coding region variants, prediction methods for noncoding region variants still need to be improved in accuracy and applicable region. This chapter outlines the basic flow of genomic medicine and how detected variants are interpreted, introducing disease variant databases to advance genomic medicine and machine learning methods for predicting the effect of noncoding region variants.

Indexed as

Databases, GeneticGenetic VariationGenomicsMachine LearningComputational BiologyHumansPrecision MedicineClinical interpretation of variantsDatabaseGenomic medicineMachine learning

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.