Abstract: Systems and methods for predicting a future cardiovascular event are provided. Electrocardiogram waveform data can be acquired and utilized in a trained computational model to predict a future cardiovascular event. Clinical interventions, clinical surveillance, and clinical treatments can be performed based on a future cardiovascular event prediction.

Abstract: Various embodiments are directed to video-based deep learning evaluation of cardiac ultrasound that accurately identify cardiomyopathy and predict ejection fraction, the most common metric of cardiac function. Embodiments include systems and methods for analyzing images obtained from an echocardiogram. Certain embodiments include receiving video from a cardiac ultrasound of a patient illustrating at least one view the patient's heart, segmenting a left ventricle in the video, and estimating ejection fraction of the heart. Certain embodiments include at least one machine learning algorithm.

Abstract: Various embodiments are directed to video-based deep learning evaluation of cardiac ultrasound that accurately identify cardiomyopathy and predict ejection fraction, the most common metric of cardiac function. Embodiments include systems and methods for analyzing images obtained from an echocardiogram. Certain embodiments include receiving video from a cardiac ultrasound of a patient illustrating at least one view the patient's heart, segmenting a left ventricle in the video, and estimating ejection fraction of the heart. Certain embodiments include at least one machine learning algorithm.

Abstract: Systems and methods in accordance with various embodiments of the invention are capable of rapid analysis and classification of cellular samples based on cytomorphological properties. In several embodiments, cells suspended in a fluid medium are passed through a microfluidic channel, where they are focused to a single stream line and imaged continuously. In a number of embodiments, the microfluidic channel establishes flow that enables individual cells to each be imaged at multiple angles in a short amount of time. A pattern recognition system can analyze the data captured from high-speed images of cells flowing through this system and classify target cells. In this way, the automated platform creates new possibilities for a wide range of research and clinical applications such as (but not limited to) point of care services.

Abstract: Systems and methods in accordance with various embodiments of the invention are capable of rapid analysis and classification of cellular samples based on cytomorphological properties. In several embodiments, cells suspended in a fluid medium are passed through a microfluidic channel, where they are focused to a single stream line and imaged continuously. In a number of embodiments, the microfluidic channel establishes flow that enables individual cells to each be imaged at multiple angles in a short amount of time. A pattern recognition system can analyze the data captured from high-speed images of cells flowing through this system and classify target cells. In this way, the automated platform creates new possibilities for a wide range of research and clinical applications such as (but not limited to) point of care services.

Abstract: High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

Abstract: With the advent of low cost, high-throughput whole genome sequencing (“next generation sequencing”), tools are available to assay human genetic variation contributing to inherited disease syndromes. A method is disclosed for prioritization of genetic variants, and identification of disease genes, using network modeling of gene associations.

Abstract: Methods of treating individuals for heart failure are disclosed. In particular, the invention relates to methods of treating individuals for heart failure with agonists of hypocretin receptor 2. The invention further relates to the use of genetic analysis of the single nucleotide polymorphism rs7767652, which resides immediately upstream of the HCRTR2 gene, to identify individuals in need of treatment for heart failure who are predicted to be more responsive to medical intervention.

Abstract: In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.

Abstract: Systems and methods in accordance with various embodiments of the invention are capable of rapid analysis and classification of cellular samples based on cytomorphological properties. In several embodiments, cells suspended in a fluid medium are passed through a microfluidic channel, where they are focused to a single stream line and imaged continuously. In a number of embodiments, the microfluidic channel establishes flow that enables individual cells to each be imaged at multiple angles in a short amount of time. A pattern recognition system can analyze the data captured from high-speed images of cells flowing through this system and classify target cells. In this way, the automated platform creates new possibilities for a wide range of research and clinical applications such as (but not limited to) point of care services.

Abstract: Systems and methods in accordance with various embodiments of the invention are capable of rapid analysis and classification of cellular samples based on cytomorphological properties. In several embodiments, cells suspended in a fluid medium are passed through a microfluidic channel, where they are focused to a single stream line and imaged continuously. In a number of embodiments, the microfluidic channel establishes flow that enables individual cells to each be imaged at multiple angles in a short amount of time. A pattern recognition system can analyze the data captured from high-speed images of cells flowing through this system and classify target cells. In this way, the automated platform creates new possibilities for a wide range of research and clinical applications such as (but not limited to) point of care services.

Abstract: Compositions and methods for treating cardiomyopathy using RNA interference are disclosed. In particular, embodiments of the invention relate to the use of oligonucleotides for treatment of cardiomyopathy, including small interfering RNAs (siRNAs) and short hairpin RNAs (shRNAs) that silence expression of disease-causing mutant alleles, such as the myosin MYL2 allele encoding human regulatory light chain (hRLC)-N47K and the MYH7 allele encoding human myosin heavy chain (hMHC)-R403Q while retaining expression of the corresponding wild-type allele.

Abstract: RNAi therapeutic systems in accordance with various embodiments of the invention provide for techniques for silencing expression of deleterious alleles using RNAi therapeutics targeting common variants of alleles. In many embodiments, processes and workflows for identifying common variants of alleles according to repeatedly occurring sets of SNPs are provided. The common variants can be found on genes where deleterious mutations can occur. The common variants can be the basis for targeting with RNAi therapeutics. Thereby, some embodiments of the invention enable efficient and cost saving targeting of common variants using RNAi therapeutics as opposed to individualized deleterious mutation targeting. Several embodiments of the invention further provide for processes for sequencing and phasing subject samples. After sequencing and phasing, some embodiments can apply the common variant targeted RNAi therapeutics to treat deleterious mutations.

Abstract: Methods of treating individuals for heart failure are disclosed. In particular, the invention relates to methods of treating individuals for heart failure with agonists of hypocretin receptor 2. The invention further relates to the use of genetic analysis of the single nucleotide polymorphism rs7767652, which resides immediately upstream of the HCRTR2 gene, to identify individuals in need of treatment for heart failure who are predicted to be more responsive to medical intervention.

Abstract: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.

Abstract: In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.

Abstract: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.

Abstract: High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

Abstract: With the advent of low cost, high-throughput whole genome sequencing (“next generation sequencing”), tools are available to assay human genetic variation contributing to inherited disease syndromes. A method is disclosed for prioritization of genetic variants, and identification of disease genes, using network modeling of gene associations.

Abstract: An embodiment of the present invention is a method for resolving long-range haplotype phase based on family pedigree data, inheritance state determination, and population linkage disequilibrium data. A method according to an embodiment of the present invention provides for the evaluation of genome wide risk using phased haplotype data.