Evidence map›Paper›PMID 34680914›Full record

ReviewGenes2021

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Sami Bizzari, Pratibha Nair, Asha Deepthi, Sayeeda Hana, Mahmoud Taleb Al-Ali, André Megarbané, Stephany El-Hayek

Abstract readReview
In one paragraph

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. 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

7 authors.

Sami BizzariCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.ORCID 0000-0002-1604-9509
Pratibha NairCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Asha DeepthiCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Sayeeda HanaCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Mahmoud Taleb Al-AliCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
André MegarbanéDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut 13-5053, Lebanon.
Stephany El-HayekCentre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.ORCID 0000-0002-2456-0905

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related genes, described in Lebanese subjects. A subset of disorders (14/642) has exclusively been described in the Lebanese population, while 24 have only been reported in CTGA and not on OMIM. An analysis of all disorders highlights a preponderance of congenital malformations, deformations and chromosomal abnormalities and demonstrates that 65% of reported disorders follow an autosomal recessive inheritance pattern. In addition, our analysis reveals that at least 58 known genetic disorders were first mapped in Lebanese families. CTGA also hosts 1316 variant records described in Lebanese subjects, 150 of which were not reported on ClinVar or dbSNP. Most variants involved substitutions, followed by deletions, duplications, as well as in-del and insertion variants. This review of genetic data from the CTGA database highlights the need for screening programs, and is, to the best of our knowledge, the most comprehensive report on the status of genetic disorders in Lebanon to date.

Indexed as

ArabsDatabases, GeneticGenetic Diseases, InbornHumansLebanonconsanguinityCTGAdatabasegenegenetic disorderLebanonrare diseasesvariants

Identifiers

PMID34680914
PMCPMC8535931

What OpenQuestion holds

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LicenceCC BY
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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.