Evidence map›Paper›PMID 42298261›Full record

GuidelineIndian journal of pediatrics2026

Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders.

Anju Shukla, Sameer Bhatia, Mounika Endrakanti, Deepti Gupta, Amita Moirangthem, Prajnya Ranganath, Executive Committee of the Society for Indian Academy of Medical Genetics (SIAMG)

Erratum issuedAbstract readPractice GuidelineConsensus StatementReview
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Indian journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. anju.shukla@manipal.edu.ORCID http://orcid.org/0000-0003-2471-4094
Sameer BhatiaDepartment of Pediatrics, Noida International Institute of Medical Sciences, Greater Noida, 201308, Uttar Pradesh, India.
Mounika EndrakantiDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Deepti GuptaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
Amita MoirangthemDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.ORCID http://orcid.org/0000-0003-0756-9868
Prajnya RanganathDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, 500082, Telangana, India.ORCID http://orcid.org/0000-0001-7122-3197
Executive Committee of the Society for Indian Academy of Medical Genetics (SIAMG)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.

Indexed as

Genetic Diseases, InbornGenetics, MedicalGenetic TestingHigh-Throughput Nucleotide SequencingRare DiseasesGenetic CounselingHumansIndiaGenetic counselingNext generation sequencingRare genetic disorders

Identifiers

PMID42298261
PMCPMC13428696

What Socratic holds

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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 Socratic graph.