Congiu Alessandra, Anagnostou Paolo, Milia Nicola, Capocasa Marco, Montinaro Francesco, Destro Bisol Giovanni
Università di Roma "La Sapienza", Dipartimento di Biologia Ambientale, Roma, Italy.
J Anthropol Sci. 2012;90:201-15. doi: 10.4436/jass.90020.
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.
本研究概述了人类群体中线粒体DNA（mtDNA）和Y染色体多态性的在线数据库。为了向读者提供可能有助于优化其使用的信息，我们重点关注：（i）所含数据的类型、数量和来源；（ii）下载和上传的可能性；（iii）数据过滤器和群体遗传学工具的可用性。我们表明，其中一些数据库通过提供额外数据访问并使利用某些特定元数据进行查询成为可能，为主要数据库提供了有益补充。此后，我们从进化人类学家的角度评估了当前的技术水平。我们建议，通过将更便捷的数据检索与质量控制相结合，并更广泛地使用关于群体和个体的元数据，在线数据库可以成为更有用的研究工具。使mtDNA和Y染色体多态性的群体数据更加完整、有序且易于获取，我们能够更好地利用新一代测序技术的潜力，推动人类进化遗传学的发展。
