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Finding Rare, Disease-Associated Variants in Isolated Groups

Potential Advantages of Mennonite Populations

Bibliographic Data

ID8960639
AuthorsFabiana L Lopes (0000-0002-9125-2048, Universidade Federal do Rio de Janeiro, corresponding author), Lopes Lopes, Liping Hou (0000-0003-3972-245X, National Human Genome Research Institute), Hou Hou, Angelica Beate Winter Boldt (0000-0002-0902-9622, Universidade Federal do Paraná), Boldt Boldt, Layla Kassem (National Human Genome Research Institute), Kassem Kassem, Verônica De Medeiros Alves (0000-0002-4343-2941, Universidade Federal do Rio de Janeiro), Alves Alves, Antonio Egidio Nardi (0000-0002-2152-4669, Universidade Federal do Rio de Janeiro), Nardi Nardi, McMahon McMahon, Francis J McMahon (0000-0002-9469-305X, National Human Genome Research Institute)
Year2016
Volume88
Issue2
Pages109-109
Publication date2016-01-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueHuman Biology (JOURNAL)
Journal identifiersISSN: 0018-7143 • E-ISSN: 1534-6617
PublisherProject MUSE (PUBLISHER • US)
DOI10.13110/humanbiology.88.2.0109
PMID28162000
OpenAlexW2587728336
LanguageEN
Citations received1
References cited1

Large-scale genotyping and next-generation sequencing techniques have allowed great advances in the field of molecular genetics. Numerous common variants of low impact have been associated with many complex human traits and diseases, such as bipolar disorder and schizophrenia. Although they may exert a greater impact on risk, few rare disease variants have been found, owing to the greatly increased sample sizes that are typically necessary to demonstrate association with rarer variants. One alternative strategy is to study isolated populations, where historical bottlenecks reduce genetic diversity and some otherwise rare variants may drift to higher frequencies. Here we describe the Mennonite population settlements, considering their history of multiple bottlenecks followed by demographic expansion and a currently widespread geographical distribution. We argue that Mennonite populations are valuable partners for studies seeking genetic variants that exert a high impact on risk for a variety of common disorders, including mental illnesses

Allele · Biology · Demographic history · Disease · Evolutionary biology · Founder effect · Gene · Genetic variation · Genotype · Genotyping · Haplotype · Population · Population genetics · Psychiatry · Schizophrenia (object-oriented programming · Sociology · Demography · Genetic Associations and Epidemiology · Genetics · Medicine

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Unique citing works1
Citations per year0,17
Citation span2020 - 2020 (1)
Citation velocityhistorical
Highly citedNo
Citation typesNeutral: 1

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