Evidence map›Paper›PMID 37551357›Full record

ReviewAsian biomedicine : research, reviews and news2022

Central resources of variant discovery and annotation and its role in precision medicine.

Hashim Halim-Fikri, Sharifah-Nany Rahayu-Karmilla Syed-Hassan, Wan-Khairunnisa Wan-Juhari, Mat Ghani Siti Nor Assyuhada, Yetti Hernaningsih, Narazah Mohd Yusoff, Amir Feisal Merican, Bin Alwi Zilfalil

Abstract readReview
In one paragraph

Review in Asian biomedicine : research, reviews and news, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

8 authors.

Hashim Halim-FikriMalaysian Node of the Human Variome Project, School of Medical Sciences, Universiti Sains Malaysia, Kelantan 16150, Malaysia.ORCID https://orcid.org/0000-0002-0760-5067
Sharifah-Nany Rahayu-Karmilla Syed-HassanMalaysian Node of the Human Variome Project, School of Medical Sciences, Universiti Sains Malaysia, Kelantan 16150, Malaysia.ORCID https://orcid.org/0000-0002-5142-4298
Wan-Khairunnisa Wan-JuhariMalaysian Node of the Human Variome Project, School of Medical Sciences, Universiti Sains Malaysia, Kelantan 16150, Malaysia.ORCID https://orcid.org/0000-0002-7111-7252
Mat Ghani Siti Nor AssyuhadaMalaysian Node of the Human Variome Project, School of Medical Sciences, Universiti Sains Malaysia, Kelantan 16150, Malaysia.ORCID https://orcid.org/0000-0001-8558-5324
Yetti HernaningsihDepartment of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia.ORCID https://orcid.org/0000-0001-8773-8267
Narazah Mohd YusoffDepartment of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, Indonesia.ORCID https://orcid.org/0000-0001-6801-2508
Amir Feisal MericanInstitute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur 50603, Malaysia.ORCID https://orcid.org/0000-0001-6809-8815
Bin Alwi ZilfalilMalaysian Node of the Human Variome Project, School of Medical Sciences, Universiti Sains Malaysia, Kelantan 16150, Malaysia.ORCID https://orcid.org/0000-0001-5055-7892

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rapid technological advancement in high-throughput genomics, microarray, and deep sequencing technologies has accelerated the possibility of more complex precision medicine research using large amounts of heterogeneous health-related data from patients, including genomic variants. Genomic variants can be identified and annotated based on the reference human genome either within the sequence as a whole or in a putative functional genomic element. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) mutually created standards and guidelines for the appraisal of proof to expand consistency and straightforwardness in clinical variation interpretations. Various efforts toward precision medicine have been facilitated by many national and international public databases that classify and annotate genomic variation. In the present study, several resources are highlighted with recognition and data spreading of clinically important genetic variations.

Indexed as

annotationdiscoveryprecision medicineresourcesvariant

Identifiers

PMID37551357
PMCPMC10392146

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.