A general and efficient representation of ancestral recombination graphs

被引:12
作者
Wong, Yan [1 ]
Ignatieva, Anastasia [2 ,3 ]
Koskela, Jere [4 ,5 ,6 ]
Gorjanc, Gregor [7 ]
Wohns, Anthony W. [8 ,9 ]
Kelleher, Jerome [1 ]
机构
[1] Univ Oxford, Big Data Inst, Li Ka Shing Ctr Hlth Informat & Discovery, Oxford OX3 7LF, England
[2] Univ Glasgow, Sch Math & Stat, Glasgow G12 8TA, Scotland
[3] Univ Oxford, Dept Stat, Oxford OX1 3LB, England
[4] Newcastle Univ, Sch Math Stat & Phys, Newcastle NE1 7RU, England
[5] Univ Warwick, Dept Stat, Coventry CV4 7AL, England
[6] Univ Edinburgh, Roslin Inst, Edinburgh EH25 9RG, Scotland
[7] Univ Edinburgh, Royal Dick Sch Vet Studies, Edinburgh EH25 9RG, Scotland
[8] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
[9] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA
基金
英国工程与自然科学研究理事会; 英国生物技术与生命科学研究理事会;
关键词
ancestral recombination graphs; NEUTRAL ALLELE MODEL; COALESCENT SIMULATION; SEQUENCES SUBJECT; MINIMUM NUMBER; DNA-SEQUENCES; NUCLEOTIDE POLYMORPHISM; LINKAGE DISEQUILIBRIUM; MAXIMUM-LIKELIHOOD; INFERENCE; RATES;
D O I
10.1093/genetics/iyae100
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
As a result of recombination, adjacent nucleotides can have different paths of genetic inheritance and therefore the genealogical trees for a sample of DNA sequences vary along the genome. The structure capturing the details of these intricately interwoven paths of inheritance is referred to as an ancestral recombination graph (ARG). Classical formalisms have focused on mapping coalescence and recombination events to the nodes in an ARG. However, this approach is out of step with some modern developments, which do not represent genetic inheritance in terms of these events or explicitly infer them. We present a simple formalism that defines an ARG in terms of specific genomes and their intervals of genetic inheritance, and show how it generalizes these classical treatments and encompasses the outputs of recent methods. We discuss nuances arising from this more general structure, and argue that it forms an appropriate basis for a software standard in this rapidly growing field.
引用
收藏
页数:18
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