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SPEARS: Standard Performance Evaluation of Ancestral Haplotype Reconstruction through Simulation.
Bioinformatics ( IF 4.4 ) Pub Date : 2020-08-25 , DOI: 10.1093/bioinformatics/btaa749
Heather Manching 1 , Randall J Wisser 1
Affiliation  

Ancestral haplotype maps provide useful information about genomic variation and biological processes. Reconstructing the descendent haplotype structure of homologous chromosomes, particularly for large numbers of individuals, can help with characterizing the recombination landscape, elucidating genotype-to-phenotype relationships, improving genomic predictions and more. Inferring haplotype maps from sparse genotype data is an efficient approach to whole-genome haplotyping, but this is a non-trivial problem. A standardized approach is needed to validate whether haplotype reconstruction software, conceived population designs and existing data for a given population provides accurate haplotype information for further inference.

中文翻译:

SPEARS:通过模拟重建祖先单倍型的标准性能评估。

祖先单倍型图谱提供了有关基因组变异和生物过程的有用信息。重建同源染色体的后代单倍型结构,特别是对于大量个体,可以帮助表征重组景观、阐明基因型与表型的关系、改进基因组预测等。从稀疏基因型数据推断单倍型图是全基因组单倍型分析的有效方法,但这是一个不平凡的问题。需要一种标准化的方法来验证单倍型重建软件、设想的群体设计和给定群体的现有数据是否提供准确的单倍型信息以供进一步推断。
更新日期:2020-08-25
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