人类mtDNA和Y染色体多态性在线数据库。

Alessandra Congiu, Paolo Anagnostou, Nicola Milia, Marco Capocasa, Francesco Montinaro, Giovanni Destro Bisol
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引用次数: 22

摘要

本研究概述了mtDNA和Y染色体多态性在人类群体中的在线数据库。为了向读者提供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。我们展示了其中一些数据库提供了对主数据库的有用补充,它们提供了对额外数据的访问,并使得执行利用某些特定元数据的查询成为可能。此后,我们将从进化人类学家的角度来评估目前的技术状况。我们建议,通过将更容易的数据检索与质量控制结合起来,以及更广泛地使用有关人口和个人的元数据,在线数据库可以成为更有用的研究工具。使mtDNA和Y染色体多态性的种群数据更加完整、有序和易于获取,我们可以更好地利用新一代测序技术的潜力,促进人类进化遗传学的进步。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Online databases for mtDNA and Y chromosome polymorphisms in human populations.

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.

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