Show simple item record

dc.creatorGlahn, David C.
dc.creatorNimgaonkar, Vishwajit L.
dc.creatorRaventós Vorst, Henriette
dc.creatorContreras Rojas, Javier
dc.creatorMcIntosh, Andrew M.
dc.creatorThomson, Pippa A.
dc.creatorJablensky, Assen
dc.creatorMcCarthy, Nina S.
dc.creatorCharlesworth, Jac C.
dc.creatorBlackburn, Nicholas B.
dc.creatorPeralta, Juan Manuel
dc.creatorKnowles, Emma
dc.creatorMathias, Samuel R.
dc.creatorAment, Seth A.
dc.creatorMcMahon, Francis J.
dc.creatorGur, Ruben C.
dc.creatorBucan, Maja
dc.creatorCurran, Joanne E.
dc.creatorAlmasy, Laura
dc.creatorGur, Raquel E.
dc.creatorBlangero, John
dc.date.accessioned2020-06-02T20:05:56Z
dc.date.available2020-06-02T20:05:56Z
dc.date.issued2018-06-28
dc.identifier.citationhttps://www.ncbi.nlm.nih.gov/pubmed/29955165es_ES
dc.identifier.urihttp://hdl.handle.net/10669/81119
dc.description.abstractAs it is likely that both common and rare genetic variation are important for complex disease risk, studies that examine the full range of the allelic frequency distribution should be utilized to dissect the genetic influences on mental illness. The rate limiting factor for inferring an association between a variant and a phenotype is inevitably the total number of copies of the minor allele captured in the studied sample. For rare variation, with minor allele frequencies of 0.5% or less, very large samples of unrelated individuals are necessary to unambiguously associate a locus with an illness. Unfortunately, such large samples are often cost prohibitive. However, by using alternative analytic strategies and studying related individuals, particularly those from large multiplex families, it is possible to reduce the required sample size while maintaining statistical power. We contend that using whole genome sequence (WGS) in extended pedigrees provides a cost-effective strategy for psychiatric gene mapping that complements common variant approaches and WGS in unrelated individuals. This was our impetus for forming the “Pedigree-Based Whole Genome Sequencing of Affective and Psychotic Disorders” consortium. In this review, we provide a rationale for the use of WGS with pedigrees in modern psychiatric genetics research. We begin with a focused review of the current literature, followed by a short history of family-based research in psychiatry. Next, we describe several advantages of pedigrees for WGS research, including power estimates, methods for studying the environment, and endophenotypes. We conclude with a brief description of our consortium and its goals.es_ES
dc.description.sponsorshipThis research was supported by National Institute of Mental Health grants U01 MH105630 (DCG), U01 MH105634 (REG), U01 MH105632 (JB), R01 MH078143 (DCG), R01 MH083824 (DCG & JB), R01 MH078111 (JB), R01 MH061622 (LA), R01 MH042191 (REG), and R01 MH063480 (VLN).es_ES
dc.language.isoen_USes_ES
dc.sourceMol Psychiatry, 24, p. 523-535 (2019)es_ES
dc.subjectpsychiatric geneticses_ES
dc.subjectAffective and Psychotic Disorderses_ES
dc.subjectWGS researches_ES
dc.subjectPedigree-Based Whole Genome Sequencinges_ES
dc.titleRediscovering the value of families for psychiatric genetics researches_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.identifier.doi10.1038/s41380-018-0073-x
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM)es_ES
dc.description.procedenceUCR::Vicerrectoría de Docencia::Ciencias Básicas::Facultad de Ciencias::Escuela de Biologíaes_ES


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record