Abstract: A computer-implemented method for automatically generating genetic risk assessments including (1) receiving a data share, derived from an electronic health records system, that indicates that a patient has scheduled an appointment with a healthcare provider, (2) in response to identifying that the patient has scheduled an appointment with the healthcare provider, sending a digital family history request to the patient in preparation for the scheduled appointment, the digital family history request including a link to a third-party portal and a request to access and complete an electronic family history form using the third-party portal, (3) receiving, through the third-party portal, responses to the family history form that the patient submitted using the third-party portal, (4) generating a genetic risk assessment for the patient based on the responses received through the third-party portal, and (5) based on the genetic risk assessment of (4), generating a three-generation patient pedigree.

Abstract: Provided are methods and compositions for enriching cfDNA fragments from a biological fluid sample. A biological fluid sample, such as a urine sample, is collected and, in certain examples, pretreated before enrichment of the cfDNA. For the pretreatment, the sample is centrifuged to remove large cells and large cellular debris. As part of the pretreatment, the sample is also cleared of additional large cellular debris and excess volume by subjecting the sample to anion exchange chromatography and eluting bound DNA. Following any pretreatment of the sample, different concentrations an alcoholic solution are used—along with a mixture of DNA-binding particles and a chaotropic agent—to enrich the sample with cfDNA fragments having different sizes. For example, a biological sample can be enriched with small cfDNA fragments less than about 100 base pairs in length or large cfDNA fragments greater than about 100 base pairs in length.

Abstract: The present disclosure relates to processes for determining the number of nucleic acid repeats in a DNA fragment comprising a nucleic acid repeat region. One example method may include receiving DNA size and abundance data generated by resolving DNA amplification products. A set of low-pass data may be generated by applying a low-pass filter to the DNA size and abundance data and a set of band-pass data may be generated by applying a band-pass filter to the DNA size and abundance data. A peak of the DNA size and abundance data representative of a number of nucleic acid repeats in the DNA may be identified based on peaks identified from the low-pass data and the band-pass data.

Abstract: A computer-implemented method for inferring genetic ancestry from low-coverage genomic data may include (i) generating a reference matrix representing a genetic reference panel in terms of dosages for given reference samples at given loci, (ii) decomposing the reference matrix via non-negative matrix factorization into an ancestral genotype matrix and an ancestral attribution matrix, (iii) resampling the reference matrix, (iv) deriving an ancestral alternate reads matrix that, when multiplied with the ancestral attribution matrix, approximates the resampled reference matrix, (v) deriving an ancestral attribution vector that, when multiplied with the ancestral alternate reads matrix, approximates a vector representing the test sample, and (vi) determining the genetic ancestry of the subject based on the ancestral attribution vector. Various other methods, systems, and computer-readable media are also disclosed.