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Genealogical data in population medical genetics: field guidelines Genet. Mol. Biol.
Poletta,Fernando A.; Orioli,Ieda M.; Castilla,Eduardo E..
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Medical genetics; Population medical genetics; Geographic clusters; Isolates; Rare diseases.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200004
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