定位未来趋势的局部祖先反褶积模型,以最佳地破译混合个体基因组变异

G. Mazandu, Ephifania Geza, Milaine Seuneu, E. Chimusa
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引用次数: 4

摘要

测序和基因分型技术的迅速进步对塑造医学和人口遗传学领域作出了重大贡献。在人类脱氧核糖核酸(DNA)序列中鉴定了数百万个变异,完成了数千个基因组。这些基因组变异高度影响不同个体或群体的表型表现和生理功能的变化。特别重要的是由混合事件引入的变异,对具有医学和/或进化意义的显着表型变异有重要贡献。在这种情况下,了解当地祖先的估计和混合的日期对于更好地理解整个现代人类进化和适应过程中的基因组变异模式至关重要。在本章中,我们调查了现有的本地祖先反褶积和混合事件模型,以确定仍需要填补的可能空白,并确定未来设计更有效模型的趋势,这些模型考虑到当前的挑战,并产生更准确的生物相关估计。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Orienting Future Trends in Local Ancestry Deconvolution Models to Optimally Decipher Admixed Individual Genome Variations
Rapid advances in sequencing and genotyping technologies have significantly contributed to shaping the area of medical and population genetics. Several thou-sand genomes are completed with millions of variants identified in the human deoxyribonucleic acid (DNA) sequences. These genomic variations highly influence changes in phenotypic manifestations and physiological functions of different individuals or population groups. Of particular importance are variations introduced by admixture event, contributing significantly to a remarkable phenotypic variability with medical and/or evolutionary implications. In this case, knowledge of local ancestry estimates and date of admixture is of utmost importance for a better understanding of genomic variation patterns throughout modern human evolution and adaptive processes. In this chapter, we survey existing local ancestry deconvolution and dating admixture event models to identify possible gaps that still need to be filled and orient future trends in designing more effective models, which account for current challenges and produce more accurate and biological relevant estimates.
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