ReviewAnnals of human genetics2016
Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.
Review in Annals of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Reduced ovarian reserve among female offspring of consanguineous marriages in the Middle East-a mini review.Frontiers in reproductive health · 2025Pooled it
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
- The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents.Biology · 2025Article
- Genetic causes of primary immunodeficiency in the Jordanian population.Biomedical reports · 2024Article
- A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.Scientific reports · 2024Article
- Consanguineous marriage among familial multiple sclerosis subjects: A national registry-based study.Heliyon · 2024Article
- Determining the Reference Range of Amino Acids in Healthy Neonatal Blood Samples in Northeast Iran Using LC-MS/MS.Reports of biochemistry & molecular biology · 2024Article
- Review
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.Gastroenterology report · 2021Article
- Study of rare genetic variants inMeta gene · 2021Article
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
- Screening of Obese Offspring of First-Cousin Consanguineous Subjects for the Angiotensin-Converting Enzyme Gene with a 287-bp Alu Sequence.Journal of obesity & metabolic syndrome · 2021Article
- A Whole-Genome Sequencing Association Study of Low Bone Mineral Density Identifies New Susceptibility Loci in the Phase I Qatar Biobank Cohort.Journal of personalized medicine · 2021Article
- Finding of parental consanguinity in men with infertility facilitates the discovery of specific genetic causes for nonobstructive azoospermia.F&S reports · 2020Article
- Article
- Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.Journal of clinical immunology · 2020Article
- Screening for obesity in the offspring of first-cousin consanguineous couples: A Phase-I study in Saudi Arabia.Saudi journal of biological sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects. However, another reason may be that many genes in the genome-even when completely "knocked out," do not cause a distinct or defined phenotype. Here, we discuss the benefits and implications of studying consanguineous populations, as opposed to the traditional approach of analysing a subset of consanguineous families or individuals with disease. We suggest that studying consanguineous populations "as a whole" can speed up the characterisation of novel gene functions as well as indicating nonessential genes and/or regions in the human genome. We also suggest designing a single nucleotide variant (SNV) array to make the process more efficient.
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Registered trials
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.