Department of Medical Genetics, Institute for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands.
Genes (Basel). 2014 Mar 11;5(1):196-213. doi: 10.3390/genes5010196.
Since the completion of the Human Genome Project, the field of human genetics has been in great flux, largely due to technological advances in studying DNA sequence variation. Although community-wide adoption of statistical standards was key to the success of genome-wide association studies, similar standards have not yet been globally applied to the processing and interpretation of sequencing data. It has proven particularly challenging to pinpoint unequivocally disease variants in sequencing studies of polygenic traits. Here, we comment on a number of factors that may contribute to irreproducible claims of association in scientific literature and discuss possible steps that we can take towards cultural change.
自人类基因组计划完成以来，人类遗传学领域发生了巨大的变化，主要是由于研究 DNA 序列变异的技术进步。尽管统计标准在全基因组关联研究的成功中至关重要，但类似的标准尚未在全球范围内应用于测序数据的处理和解释。在多基因性状的测序研究中，准确地确定疾病变异一直是一个具有挑战性的问题。在这里，我们评论了一些可能导致科学文献中关联结果不可重复的因素，并讨论了我们可以朝着文化变革采取的一些措施。
