IP Library Granted Patent US 8,527,547
Granted Patent B2
US 8,527,547 · App. 13/169,824 · Granted Sep 3, 2013

Sampling the space of ancestral recombination graphs

Inventors: Laxmi P. Parida (Mohegan Lake, NY); Asif Javed (Cortlandt Manor, NY)
Assignee: International Business Machines Corporation
G06F17/30958G06F17/30327G06F17/30625G06F17/30961Y10S707/956
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Quick Facts
Patent No.
US 8,527,547
App. No.
13/169,824
Granted
Sep 3, 2013
Kind
B2
Abstract

A method is provided for constructing an ancestral recombination graph. A value K is received representing K extant units. M non-mixing segments are also received. K vertices V are generated. K lineages for each of M trees are associated with each of the K vertices. An ancestral recombination graph is constructed. To construct the ancestral recombination graph, there is repeated, until only one lineage survives for each of the M trees, a process that includes the following. A tree is randomly selected tree. A first vertex v 1 and a second vertex v 2 are randomly selected. Two adjoining segments in the M non-mixing segments of the first and second vertices are combined together into a single vertex. A separate vertex is generated for at least one remaining segment in each of the M non-mixing segments of the first and second vertices. The vertices V are updated to be vertices that are non-interior vertices.

Claims (474)

1. A computer-implemented method for constructing an ancestral recombination graph, the method comprising:

receiving a value K, where K is a positive integer number of extant units representing K individuals of a current generation being studied;

receiving M non-mixing segments in the K extant units, where M is a positive integer number;

generating K vertices V, each of the K extant units being initially assigned to the K vertices V, and K lineages for each of M trees being associated with each of the K vertices; and

constructing an ancestral recombination graph based on at least the K extant units and the M non-mixing segments,

wherein constructing the ancestral recombination graph comprises repeating, until only one lineage survives for each of the M trees, a process comprising:

randomly selecting one tree from the M trees;

randomly selecting a first vertex v1 and a second vertex v2 from the vertices V;

combining two adjoining segments in the M non-mixing segments of the first vertex v1 and the second vertex v2 together into a single vertex;

generating a separate vertex for at least one remaining segment in each of the M non-mixing segments of the first vertex v1 and the second vertex v2; and

updating the vertices V to be vertices that are non-interior vertices, an interior vertex being a vertex for which all the lineages being transmitted therethrough have an ancestor.

2. The method of claim 1 , wherein the process further comprises increasing a height of the ancestral recombination graph by an increment of 1.

3. The method of claim 1 , wherein the process further comprises determining a waiting time H 2 of the first vertex v 1 and the second vertex v 2 to have a common ancestor, where

H

2

=

min

t

=

1

,

,

n

t

H

t

,

n

t

=

T

,

T={1≦t≦M|L t >1}, t=1, 2, . . . , M, and for each t, L t is initialized to K, wherein H t is a value of a random variable, and wherein L t is a number of lineages for a tree t at a given iteration.

4. The method of claim 3 ,

wherein the common ancestor is the single vertex into which the two adjoining segments in the M non-mixing segments of the first vertex v 1 and the second vertex v 2 have been combined, and

the single vertex is placed in the ancestral recombinations graph at a depth corresponding to the waiting time.

5. The method of claim 3 , wherein a probability that the first vertex v 1 and the second vertex v 2 have a common ancestor is

P

(

H

t

x

)

=

1

-

-

(

L

r

2

)

x

,

wherein L r is a number of lineages of a randomly selected tree r.

6. The method of claim 3 , wherein the waiting time H 2 is measured in generations.

7. The method of claim 1 , further comprising:

after the process ends, determining a root node of the ancestral recombination graph based on a probability

P

(

H

n

v

t

)

=

k

=

1

n

v

(

-

1

)

k

-

1

(

2

k

-

1

)

-

k

(

k

-

1

)

t

/

2

(

n

v

-

1

)

(

n

v

-

(

k

-

1

)

)

(

n

v

+

1

)

(

n

v

+

(

k

-

1

)

)

wherein H n v is a waiting time of n v vertices to have a common ancestor, where n v is assigned K, and t=1, 2, . . . , M.

8. The method of claim 1 , further comprising annotating edges of the ancestral recombination graph with genetic events.

9. An information processing system for constructing an ancestral recombination graph, the information processing system comprising:

memory;

a processor communicatively coupled to the memory; and

an ancestral recombination graph constructor communicatively coupled to the memory and the processor, the ancestral recombination graph constructor being configured to:

receive a value K, where K is a positive integer number of extant units representing K individuals of a current generation being studied;

receive M non-mixing segments in the K extant units, where M is a positive integer number;

generate K vertices V, each of the K extant units being initially assigned to the K vertices V, and K lineages for each of M trees being associated with each of the K vertices; and

construct an ancestral recombination graph based on at least the K extant units and the M non-mixing segments,

wherein constructing the ancestral recombination graph comprises repeating, until only one lineage survives for each of the M trees, a process comprising:

randomly selecting one tree from the M trees;

randomly selecting a first vertex v 1 and a second vertex v 2 from the vertices V;

combining two adjoining segments in the M non-mixing segments of the first vertex v 1 and the second vertex v 2 together into a single vertex;

generating a separate vertex for at least one remaining segment in each of the M non-mixing segments of the first vertex v 1 and the second vertex v 2 ; and

updating the vertices V to be vertices that are non-interior vertices, an interior vertex being a vertex for which all the lineages being transmitted therethrough have an ancestor.

10. The information processing system of claim 9 , wherein the process further comprises determining a waiting time H 2 of the first vertex v 1 and the second vertex v 2 to have a common ancestor, where

H

2

=

min

t

=

1

,

,

n

t

H

t

,

n

t

=

T

,

T={1≦t≦M|L t >1}, t=1, 2, . . . , M, and for each t, L t is initialized to K wherein H t is a value of a random variable, and wherein L t is a number of lineages for a tree t at a given iteration.

11. The information processing system of claim 10 , wherein a probability that the first vertex v 1 and the second vertex v 2 have a common ancestor is

P

(

H

t

x

)

=

1

-

-

(

L

r

2

)

x

,

wherein L r is a number of lineages of a randomly selected tree r.

12. The information processing system of claim 9 , wherein the method performed by the ancestral recombination graph constructor further comprises:

after the process ends, determining a root node of the ancestral recombination graph based on a probability

P

(

H

n

v

t

)

=

k

=

1

n

v

(

-

1

)

k

-

1

(

2

k

-

1

)

-

k

(

k

-

1

)

t

/

2

(

n

v

-

1

)

(

n

v

-

(

k

-

1

)

)

(

n

v

+

1

)

(

n

v

+

(

k

-

1

)

)

wherein H n v is a waiting time of n v vertices to have a common ancestor, where n v is assigned K, and t=1, 2, . . . , M.

13. A non-transitory computer-readable medium encoded with a program for constructing an ancestral recombination graph, the program comprising instructions for:

receiving a value K, where K is a positive integer number of extant units representing K individuals of a current generation being studied;

receiving M non-mixing segments in the K extant units, where M is a positive integer number;

generating K vertices V, each of the K extant units being initially assigned to the K vertices V, and K lineages for each of M trees being associated with each of the K vertices; and

constructing an ancestral recombination graph based on at least the K extant units and the M non-mixing segments,

wherein constructing the ancestral recombination graph comprises repeating, until only one lineage survives for each of the M trees, a process comprising:

randomly selecting one tree from the M trees;

randomly selecting a first vertex v 1 and a second vertex v 2 from the vertices V;

combining two adjoining segments in the M non-mixing segments of the first vertex v 1 and the second vertex v 2 together into a single vertex;

generating a separate vertex for at least one remaining segment in each of the M non-mixing segments of the first vertex v 1 and the second vertex v 2 ; and

updating the vertices V to be vertices that are non-interior vertices, an interior vertex being a vertex for which all the lineages being transmitted therethrough have an ancestor.

14. The non-transitory computer-readable medium of claim 13 , wherein the process further comprises increasing a height of the ancestral recombination graph by an increment of 1.

15. The non-transitory computer-readable medium of claim 13 , wherein the process further comprises determining a waiting time H 2 of the first vertex v 1 and the second vertex v 2 to have a common ancestor, where

H

2

=

min

t

=

1

,

,

n

t

H

t

,

n

t

=

T

,

T={1≦t≦M|L t >1}, t=1, 2, . . . , M, and for each t, L t is initialized to K wherein H t is a value of a random variable, and wherein L t is a number of lineages for a tree t at a given iteration.

16. The non-transitory computer-readable medium of claim 15 ,

wherein the common ancestor is the single vertex into which the two adjoining segments in the M non-mixing segments of the first vertex v 1 and the second vertex v 2 have been combined, and

the single vertex is placed in the ancestral recombinations graph at a depth corresponding to the waiting time.

17. The non-transitory computer-readable medium of claim 15 , wherein a probability that the first vertex v 1 and the second vertex v 2 have a common ancestor is

P

(

H

t

x

)

=

1

-

-

(

L

r

2

)

x

,

wherein L r is a number of lineages of a randomly selected tree r.

18. The non-transitory computer-readable medium of claim 15 , wherein the waiting time H 2 is measured in generations.

19. The non-transitory computer-readable medium of claim 13 , further comprising:

after the process ends, determining a root node of the ancestral recombination graph based on a probability

P

(

H

n

v

t

)

=

k

=

1

n

v

(

-

1

)

k

-

1

(

2

k

-

1

)

-

k

(

k

-

1

)

t

/

2

(

n

v

-

1

)

(

n

v

-

(

k

-

1

)

)

(

n

v

+

1

)

(

n

v

+

(

k

-

1

)

)

wherein H n v is a waiting time of n v vertices to have a common ancestor, where n v is assigned K, and t=1, 2, . . . , M.

20. The non-transitory computer-readable medium of claim 13 , further comprising annotating edges of the ancestral recombination graph with genetic events.

Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jun 27, 2011
From: PARIDA, LAXMI P.; JAVED, ASIF
To: INTERNATIONAL BUSINESS MACHINES CORPORATION
Reel/Frame 026509/0658 →
Continuity (1)
Related Publication 20120331008A1 · Dec 27, 2012