Determining data inheritance of data segments

Patent metadata

Field	Value
Publication number	US-12530378-B2
Application number	US-202519237426-A
Country	US
Kind code	B2
Filing date	Jun 13, 2025
Priority date	Aug 2, 2019
Publication date	Jan 20, 2026
Grant date	Jan 20, 2026

Abstract

A computing device may receive a target data instance. The computing device may identify a plurality of matched segments that match to the target data instance for at least a threshold length. The computing device may define, based on overlapping of the matched segments, the target data instance as a plurality of data string ranges, wherein each divided data string is matched to a set of overlapping matched segments. The computing device may apply an iterative clustering algorithm to group the plurality of data string ranges based on values of a similarity metric among data string ranges that are assigned to a given group. The computing device may attribute a first set of data string ranges that are assigned to a first group to a first inheritance.

First claim

The invention claimed is:

1 . A computer-implemented method for determining data inheritance of data segments, the computer-implemented method comprising:
receiving a target data instance of a target individual; identifying, from a database of matched individuals, a plurality of additional data instances having identity-by-descent (IBD) segments that match with the target data instance; identifying, based on total IBD segment lengths shared with the target data instance, a subset of the additional data instances as closely matched relatives; determining a first familial relationship between the target individual and a first particular matched relative in the subset; assigning a special status of being extra-informative to IBD segments of the first particular matched relative based on the first familial relationship being determined to be on only one side of inheritance; comparing the IBD segments having the special status of being extra-informative to identify a plurality of matched data segments shared between the target individual and the first particular matched relative; and generating an inheritance separation of the target data instance of the target individual based on the IBD segments having the special status of being extra-informative.

2 . The computer-implemented method of claim 1 , further comprising:
determining a second familial relationship between the target individual and a second particular matched relative in the subset; assigning a special status of being same-inheritance status to IBD segments of the second particular matched relative based on the second familial relationship being determined to share inheritance from both sides of the target individual; and filtering, based on the special status of being same-inheritance status, the second particular matched relative to exclude the second particular matched relative from subsequent processing.

3 . The computer-implemented method of claim 1 , further comprising:
classifying the matched segments into a plurality of sub-cluster pairs, wherein each sub-cluster pair represents a data locus and includes a first side and a second side comprising sets of matched segments; generating a super-cluster by linking one or more first sides and one or more second sides across the plurality of sub-cluster pairs; and generating the inheritance separation of the target data instance of the target individual based on the super-cluster.

4 . The computer-implemented method of claim 1 , wherein the IBD segments having the special status of being extra-informative are used to phase the target data instance into two parental inheritances.

5 . The computer-implemented method of claim 1 , wherein determining the first familial relationship comprises using total IBD segment length expressed in centimorgans (cM) shared between the target individual and the first particular matched relative.

6 . The computer-implemented method of claim 1 , wherein determining the first familial relationship comprises retrieving pre-computed pairwise relationships from a relationship database.

7 . The computer-implemented method of claim 1 , further comprising:
constructing a network of relationships among closely matched relatives to infer inheritance sides.

8 . The computer-implemented method of claim 1 , wherein the special status of being extra-informative is assigned if the first particular matched relative does not match all other closely matched relatives.

9 . The computer-implemented method of claim 1 , further comprising accessing a user-constructed family tree and using the user-constructed family tree to confirm the first familial relationship between the target individual and the first particular matched relative.

10 . The computer-implemented method of claim 1 , wherein determining the first familial relationship comprises executing a machine learning model to estimate probabilities of relationship types.

11 . The computer-implemented method of claim 1 , wherein IBD segments of the first particular matched relative are marked using metadata indicating extra-informative status.

12 . The computer-implemented method of claim 1 , wherein a triangulation technique is applied to confirm whether the first particular matched relative is aligned to a single inheritance side.

13 . The computer-implemented method of claim 1 , wherein determining the subset of closely matched relatives includes applying different length thresholds for different inheritance levels.

14 . The computer-implemented method of claim 1 , wherein the inheritance separation is output as a labeled phased genomic dataset corresponding to maternal and paternal segments.

15 . A system for determining data inheritance of data segments, the system comprising:
one or more processors; and memory configured to store code comprising instructions, wherein the instructions, when executed by the one or more processors, cause the one or more processors to perform steps comprising:
receiving a target data instance of a target individual;
identifying, from a database of matched individuals, a plurality of additional data instances having identity-by-descent (IBD) segments that match with the target data instance;
identifying, based on total IBD segment lengths shared with the target data instance, a subset of the additional data instances as closely matched relatives;
determining a first familial relationship between the target individual and a first particular matched relative in the subset;
assigning a special status of being extra-informative to IBD segments of the first particular matched relative based on the first familial relationship being determined to be on only one side of inheritance;
comparing the IBD segments having the special status of being extra-informative to identify a plurality of matched data segments shared between the target individual and the first particular matched relative; and
generating an inheritance separation of the target data instance of the target individual based on the IBD segments having the special status of being extra-informative.

16 . The system of claim 15 , wherein the steps further comprise:
determining a second familial relationship between the target individual and a second particular matched relative in the subset; assigning a special status of being same-inheritance status to IBD segments of the second particular matched relative based on the second familial relationship being determined to share inheritance from both sides of the target individual; and filtering, based on the special status of being same-inheritance status, the second particular matched relative to exclude the second particular matched relative from subsequent processing.

17 . The system of claim 15 , wherein the steps further comprise:
classifying the matched segments into a plurality of sub-cluster pairs, wherein each sub-cluster pair represents a data locus and includes a first side and a second side comprising sets of matched segments; generating a super-cluster by linking one or more first sides and one or more second sides across the plurality of sub-cluster pairs; and generating the inheritance separation of the target data instance of the target individual based on the super-cluster.

18 . The system of claim 15 , wherein the IBD segments having the special status of being extra-informative are used to phase the target data instance into two parental inheritances.

19 . The system of claim 15 , wherein determining the first familial relationship comprises u

Assignees

• Ancestry Com Dna Llc

Inventors

• Noto Keith D

Classifications

• G06F16/322

  Trees · CPC title

• G06F16/285 Primary

  Clustering or classification · CPC title