《自然》发布迄今最大规模人类遗传变异体数据(2)

《自然》同期的一篇评论文章指出，这一大规模的基因组测序和分析工作产生了迄今为止最全面的数据和工具来了解人类的遗传变异。gnomeAD已经将这些数据和工具公开。这份宝贵的遗传资源，将改变我们解读个体基因组的方式，为我们理解人类的生物学特征和疾病，评估罕见和常见遗传病，提供重要信息。

参考资料：

[1] Konrad J. Karczewski et al., (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. https://doi.org/10.1038/s41586-020-2308-7

[2] Transcript expression-aware annotation improves rare variant interpretation. Nature. https://doi.org/10.1038/s41586-020-2329-2

[3] Evaluating drug targets through human loss-of-function genetic variation. Nature. https://doi.org/10.1038/s41586-020-2267-z

[4] A structural variation reference for medical and population genetics. Nature. https://doi.org/10.1038/s41586-020-2287-8

[5] Thousands of human sequences provide deep insight into single genomes. Retrieved May 28, 2020, from https://www.nature.com/articles/d41586-020-01485-4

（原标题：重要里程碑！今日《自然》发布迄今最大规模人类遗传变异体数据库）