Bioinformatics and Cellular Genomics, St. Vincent's Institute of Medical Research, Melbourne, Australia.
Melbourne Integrative Genomics, Faculty of Science, The University of Melbourne, Melbourne, Australia.
Genome Biol. 2021 Apr 19;22(1):112. doi: 10.1186/s13059-021-02327-w.
Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual's genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics.
遗传图谱对于构建我们对疾病遗传学和进化过程的理解至关重要。个体的配子包含了从头进行个体基因组的染色体级别的组装所需的全部信息，而这在历史上是通过群体和家系来完成的。在这里，我们讨论了单细胞配子测序如何结合短读测序的优势，以及构建个性化遗传图谱的能力，从而为个性化遗传学开辟一个全新的领域。
