Evidence map›Paper›PMID 36980999›Full record

ArticleGenes2023

RETRACTED: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.

Draga Toncheva, Maria Marinova, Todor Chobanov, Dimitar Serbezov

RetractedOpen access · goldFull text readRetracted Publication
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 31% of its field
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 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Draga TonchevaMedical Faculty, Department of Medical Genetics, Medical University of Sofia, Sofia 1000, Bulgaria.ORCID 0000-0002-2027-6122
Maria MarinovaDepartment of Computer Systems and Technologies, Faculty of Electronics and Automation, Technical University of Sofia, Branch Plovdiv, Plovdiv 4000, Bulgaria.
Todor ChobanovInstitute of Balkan Studies, Centre of Tracology at the Bulgarian Academy of Sciences, Sofia 1000, Bulgaria.
Dimitar SerbezovMedical Faculty, Department of Medical Genetics, Medical University of Sofia, Sofia 1000, Bulgaria.
Bulgarian Academy of Sciences · BGMedical University of Sofia · BGTechnical University of Sofia · BG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ancient anatomically modern humans (AMHs) encountered other archaic human species, most notably Neanderthals and Denisovans, when they left Africa and spread across Europe and Asia ~60,000 years ago. They interbred with them, and modern human genomes retain DNA inherited from these interbreeding events. High quality (high coverage) ancient human genomes have recently been sequenced allowing for a direct estimation of individual heterozygosity, which has shown that genetic diversity in these archaic human groups was very low, indicating low population sizes. In this study, we analyze ten ancient human genome-wide data, including four sequenced with high-coverage. We screened these ancient genome-wide data for pathogenic mutations associated with monogenic diseases, and established unusual aggregation of pathogenic mutations in individual subjects, including quadruple homozygous cases of pathogenic variants in the

Indexed as

HominidaeNeanderthalsAnimalsDNAGenome, HumanHumansInfant, NewbornRare DiseasesDNAancient DNAgenome-wide datamonogenic diseases

Identifiers

PMID36980999
PMCPMC10048696
OpenAlexW4327621730

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read10
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.