This study presents an overview of online databases for mtDNA and Y chromosome polymorphisms in human populations. In order to provide readers with information which may help optimize their use, we focus on: (i) type, quantity and source of data contained; (ii) possibilities of downloading and uploading; (iii) availability of data filters and population genetics tools. We show that some of these databases offer a useful complement to the primary databases by giving access to additional data and making it possible to perform queries which exploit some specific metadata. Thereafter, we evaluate the state of the art from an evolutionary anthropologist's point of view. We suggest that online databases could become even more useful research tools by combining an easier data retrieval with quality control and by making a more extensive use of metadata regarding populations and individuals. Making population data on mtDNA and Y chromosome polymorphisms more complete, well ordered and easily accessible, we could better exploit the potential of new generation sequencing techniques for advancements in human evolutionary genetics.

Online databases for mtDNA and Y chromosome polymorphisms in human populations / Alessandra, Congiu; Anagnostou, Paolo; Nicola, Milia; Capocasa, Marco; Francesco, Montinaro; DESTRO-BISOL, Giovanni. - In: JOURNAL OF ANTHROPOLOGICAL SCIENCES. - ISSN 1827-4765. - STAMPA. - 90:(2012), pp. 201-215. [10.4436/jass.90020]

Online databases for mtDNA and Y chromosome polymorphisms in human populations

ANAGNOSTOU, PAOLO;CAPOCASA, MARCO;DESTRO-BISOL, Giovanni
2012

Abstract

This study presents an overview of online databases for mtDNA and Y chromosome polymorphisms in human populations. In order to provide readers with information which may help optimize their use, we focus on: (i) type, quantity and source of data contained; (ii) possibilities of downloading and uploading; (iii) availability of data filters and population genetics tools. We show that some of these databases offer a useful complement to the primary databases by giving access to additional data and making it possible to perform queries which exploit some specific metadata. Thereafter, we evaluate the state of the art from an evolutionary anthropologist's point of view. We suggest that online databases could become even more useful research tools by combining an easier data retrieval with quality control and by making a more extensive use of metadata regarding populations and individuals. Making population data on mtDNA and Y chromosome polymorphisms more complete, well ordered and easily accessible, we could better exploit the potential of new generation sequencing techniques for advancements in human evolutionary genetics.
2012
data sharing; human genetic variation; data downloading; population genetics tools; data quality control; anthropological metadata; uploading; secondary databases; data downlo; data uploading
01 Pubblicazione su rivista::01a Articolo in rivista
Online databases for mtDNA and Y chromosome polymorphisms in human populations / Alessandra, Congiu; Anagnostou, Paolo; Nicola, Milia; Capocasa, Marco; Francesco, Montinaro; DESTRO-BISOL, Giovanni. - In: JOURNAL OF ANTHROPOLOGICAL SCIENCES. - ISSN 1827-4765. - STAMPA. - 90:(2012), pp. 201-215. [10.4436/jass.90020]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/488727
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