Methods for analyzing genotypes

Inventors

CHANDRATILLAKE, Gemma L. • Garcia, Sarah K. • Chen, Richard • Clark, Michael James

Assignees

Personalis Inc

Abstract

The disclosure provides methods and systems for analyzing genotype data. In some embodiments, a computer-implemented method comprises receiving data relating to one or more phenotypes of a subject or family members thereof, and ranking genes based on their association score with one or more phenotypes. Next, an output of the data is generated, the output comprising a comparison of the data based on the association score. The comparison can be in at least one of numeric and graphic form.

Core Innovation

A computer-implemented method ranks a plurality of genes associated with one or more phenotypes of a subject or family members. The method receives data relating to the phenotypes and receives data relating to genotypes of the subject or family members. Using a programmed computer processor, the method ranks the plurality of genes based at least in part on an association score with the one or more phenotypes.

The association score is a weighted score based on familial and/or hereditary information, specificity of a clinical feature-to-gene relationship, and/or reciprocity of clinical features and/or diseases associated with the genes. The specificity is based on the clinical feature-to-gene relationship, and the reciprocity relates clinical features and/or diseases associated with the genes. The weighted association provides a phenotype-driven basis for ranking genes.

In parallel with the phenotype-driven association score, the method ranks the plurality of genes of the one or more genotypes using an inheritance pattern score. The inheritance pattern score is based on allowed genotypes and at least partially based on a likelihood of the genotype to explain a particular inheritance pattern, a segregation pattern, or a combination thereof. The method generates an output with at least a subset of the plurality of genes ranked based on the association score and inheritance pattern score.

Claims Coverage

The partial content includes one independent claim. It specifies a computer-implemented pipeline that ranks genes using a phenotype association score and an inheritance pattern score, then generates output from ranked subsets.

The claim coverage centers on ranking genes using a weighted phenotype-driven association score and an inheritance-pattern score, followed by generating output using ranked subsets.

Stated Advantages

Documented Applications

No documented applications found