Abstract: The invention provides methods for generating a likelihood of achieving ongoing pregnancy in an individual by combining both clinical and genetic data. These methods involve the determination of one or more correlations between clinical characteristics and known pregnancy and infertility-related outcomes from a reference set of data to provide a model representative of a cumulative probability of ongoing pregnancy. The methods further involve the determination of one or more correlations between genetic characteristics and known pregnancy and infertility-related outcomes from the reference set of data to adjust the model. The model can then be applied to the input data to generate the likelihood of achieving ongoing pregnancy in the subject.

Abstract: The present invention relates to methods and systems for assessing risk of infertility and ovarian dysfunction and/or diminished ovarian reserve and/or for determining an appropriate course of treatment. In some embodiments, the invention provides methods for assessing likelihood of ovarian dysfunction, including identifying a plurality of genetic variants that are filtered into functional biological pathways. The frequency distribution of the variants in each functional pathway is then compared to frequency distributions obtained from reference sets corresponding to each pathway. Further embodiments of the invention comprise clustering subjects based on patterns in their genetic variants, and identifying phenotypic differences with respect to ovarian dysfunction between clusters of patients.