Evidence map›Paper›PMID 39678383›Full record

ArticleFrontiers in genetics2024

Genewise detection of variants in

Lilit Ghukasyan, Gisane Khachatryan, Tamara Sirunyan, Arpine Minasyan, Siras Hakobyan, Andranik Chavushyan, Varduhi Hayrapetyan, Hovsep Ghazaryan, Gevorg Martirosyan, Gohar Mkrtchyan and 5 more

Abstract read
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Frontiers in genetics · 2026
    Article
  3. 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

15 authors.

Lilit Ghukasyan *Laboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Gisane Khachatryan *Laboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Tamara Sirunyan *Laboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Arpine Minasyan *Laboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Siras HakobyanResearch Group of Bioinformatics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Andranik ChavushyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Varduhi HayrapetyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Hovsep GhazaryanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Gevorg MartirosyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Gohar MkrtchyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Valentina VardanyanDepartment of Rheumatology, Yerevan State Medical University after Mkhitar Heratsi (YSMU), Yerevan, Armenia.
Vahan MukuchyanDepartment of Internal Medicine and Rheumatology, Nairi Medical Center, Yerevan, Armenia.
Ashot Davidyants"Gisane" LLC, Davidyants Laboratories, Yerevan, Armenia.
Roksana ZakharyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Arsen ArakelyanLaboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial Mediterranean Fever (FMF) is a genetic disorder with complex inheritance patterns and genotype-phenotype associations, and it is highly prevalent in Armenia. FMF typically follows an autosomal recessive inheritance pattern (OMIM: 249100), though it can occasionally display a rare dominant inheritance pattern with variable penetrance (OMIM։134610). The disease is caused by mutations in the

Indexed as

familial mediterranean feverFMFgenetic testingMEFVnanopore sequencingvariant detection

Identifiers

PMID39678383
PMCPMC11638185

What OpenQuestion 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 OpenQuestion graph.