دورية أكاديمية
Genealogical data in population medical genetics: field guidelines
| العنوان: | Genealogical data in population medical genetics: field guidelines |
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| المؤلفون: | Fernando A. Poletta, Ieda M. Orioli, Eduardo E. Castilla |
| المصدر: | Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 171-185 (2014) |
| بيانات النشر: | Sociedade Brasileira de Genética, 2014. |
| سنة النشر: | 2014 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | medical genetics, population medical genetics, geographic clusters, isolates, rare diseases, Genetics, QH426-470 |
| الوصف: | 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 pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1678-4685 1415-4757 |
| Relation: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200004&lng=en&tlng=en; https://doaj.org/toc/1678-4685 |
| DOI: | 10.1590/S1415-47572014000200004 |
| URL الوصول: | https://doaj.org/article/03e67b5e13e349b3b8cab66234e0ab5b |
| رقم الأكسشن: | edsdoj.03e67b5e13e349b3b8cab66234e0ab5b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 16784685 14154757 |
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| DOI: | 10.1590/S1415-47572014000200004 |