Inference on Recombination and Block Structure Using Unphased Data
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Inference on Recombination and Block Structure Using Unphased Data. / Wiuf, Carsten.
In: Genetics, Vol. 166, No. 1, 01.01.2004, p. 537-545.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Inference on Recombination and Block Structure Using Unphased Data
AU - Wiuf, Carsten
PY - 2004/1/1
Y1 - 2004/1/1
N2 - In this study compatibility with a tree for unphased genotype data is discussed. If the data are compatible with a tree, the data are consistent with an assumption of no recombination in its evolutionary history. Further, it is said that there is a solution to the perfect phylogeny problem; i.e., for each individual a pair of haplotypes can be defined and the set of all haplotypes can be explained without invoking recombination. A new algorithm to decide whether or not a sample is compatible with a tree is derived. The new algorithm relies on an equivalence relation between sites that mutually determine the phase of each other. (The previous algorithm was based on advanced graph theoretical tools.) The equivalence relation is used to derive the number of solutions to the perfect phylogeny problem. Further, a series of statistics, RMj, j ≥ 2, are defined. These can be used to detect recombination events in the sample's history and to divide the sample into regions that are compatible with a tree. The new statistics are applied to real data from human genes. The results from this application are discussed with reference to recent suggestions that recombination in the human genome is highly heterogeneous.
AB - In this study compatibility with a tree for unphased genotype data is discussed. If the data are compatible with a tree, the data are consistent with an assumption of no recombination in its evolutionary history. Further, it is said that there is a solution to the perfect phylogeny problem; i.e., for each individual a pair of haplotypes can be defined and the set of all haplotypes can be explained without invoking recombination. A new algorithm to decide whether or not a sample is compatible with a tree is derived. The new algorithm relies on an equivalence relation between sites that mutually determine the phase of each other. (The previous algorithm was based on advanced graph theoretical tools.) The equivalence relation is used to derive the number of solutions to the perfect phylogeny problem. Further, a series of statistics, RMj, j ≥ 2, are defined. These can be used to detect recombination events in the sample's history and to divide the sample into regions that are compatible with a tree. The new statistics are applied to real data from human genes. The results from this application are discussed with reference to recent suggestions that recombination in the human genome is highly heterogeneous.
UR - http://www.scopus.com/inward/record.url?scp=1642360208&partnerID=8YFLogxK
U2 - 10.1534/genetics.166.1.537
DO - 10.1534/genetics.166.1.537
M3 - Journal article
C2 - 15020442
AN - SCOPUS:1642360208
VL - 166
SP - 537
EP - 545
JO - Genetics
JF - Genetics
SN - 1943-2631
IS - 1
ER -
ID: 203902508