Systems and methods for identifying sequence variation associated with genetic diseases
AssigneeLife Technologies Corporation
InventorsFiona HYLAND, Heinz BREU
Life of this patent
Estimating the term…
Abstract
Systems and method for identifying variants associated with a genetic disease can include obtaining calls for a plurality of individuals for a list of variant positions. The calls can be compared to identify variants that are found in affected individuals and absent in non-affected individuals. Such variants can include loss of heterozygosity, trans-phased compound heterozygotes, increased frequency mitochondrial variants, homozygous recessive variants, de novo variants, sex-linked variants, and combinations thereof.
Claims20
A method for identifying variants associated with a genetic disease or trait, the method comprising:
- mapping, using a processor, a plurality of nucleic acid reads from a plurality of subjects to a reference genome, the subjects comprising one or more affected individuals and one or more unaffected individuals, the one or more affected individuals each having the genetic disease or trait;
- for each subject, identifying, using the processor, whether a difference exists between the read from the subject and the reference genome, one or more variants being identified on a condition that a difference exists;
- validating, using the processor, a defined biological relationship between the subjects;
- based on the identifying, determining, using the processor, a presence or an absence of the one or more variants in each of the subjects;
- identifying, using the processor, a pattern of the one or more variants found in the one or more affected individuals and not in the one or more unaffected individuals;
- and
- outputting the pattern.
Dependencies are inferred from the claim text.