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A system, device and method for receiving multiple aligned genetic sequences obtained from genetic samples of multiple organisms of one or more different species. A measure of evolutionary variation may be computed for one or more alleles at each of one or more aligned genetic loci. The aligned genetic loci in the multiple organisms may be derived from one or more common ancestral genetic loci or may be otherwise related. The measure of evolutionary variation may be a function of variation in alleles at corresponding aligned genetic loci in the multiple aligned genetic sequences. One or more likelihoods may be computed that an allele mutation at each of the one or more genetic loci in a simulated virtual progeny will be deleterious based on the measure of evolutionary variation of alleles at the corresponding aligned genetic loci for the multiple organisms.


News Article | June 28, 2017
Site: www.businesswire.com

CAMBRIDGE, Mass.--(BUSINESS WIRE)--GenePeeks, Inc., a computational genomics company focused on transforming genetic disease risk analysis, today announced a new partnership with The World Egg Bank to bring GenePeeks Preconception Screen to even more families around the world. The World Egg Bank, the longest operating egg bank in the US, is a premier egg donation program headquartered in Arizona with affiliates in New York, London and Boston. “ We are thrilled to add The World Egg Bank to our growing list of partners, with its legacy of innovation and outstanding support for intended parents,” said Anne Morriss, Co-founder and Chief Executive Officer of GenePeeks. “ This partnership continues to expand families’ access to our advanced analytics and visibility into the true risk that a prospective child could inherit any one of more than a 1000 serious diseases.” GenePeeks is The World Egg Bank’s exclusive provider of advanced genetic screening services. Prospective parents using the services of The World Egg Bank may now choose from donors identified as “GenePeeks Ready,” saving significant time in their fertility journey. Completing the GenePeeks Preconception Screen before fertilization will help families better understand their future child’s risk of disease inheritance and provide them with critical genetic risk information to make a more informed donor selection. “ Increasingly, we see growing awareness of genetic disease risk and demand for better safeguards,” said Diana Thomas, Chief Executive Officer of The World Egg Bank. “ We have a deep commitment to bring advanced reproductive technologies to our families and are excited to now add GenePeeks Preconception Screen to our suite of services.” Preconception care and testing for intended parents is a growing global marketplace. According to The World Health Organization (WHO), there is increasing demand for preconception care in both developed and emerging countries. Preconception screening programs are being launched worldwide to help potential parents better understand their risk of a child being born with a genetic disorder.1 About GenePeeks’ Technology GenePeeks’ comprehensive approach, called Virtual Progeny Analytics (VPA), uniquely integrates simulated DNA information from two genetic participants to predict the future genome of a child prior to conception. For every mutation in these hypothetical genomes, the company computes a proprietary Variant Gene Dysfunction (VGD) score that predicts gene function and associated disease risk. This next generation approach allows GenePeeks to cover an expanded number of diseases with increased sensitivity and evaluate variants that may remain uncharacterized by other genetic tests, while avoiding the confusion and anxiety that can be associated with carrier testing. In contrast to carrier screening, which identifies parental carrier status, GenePeeks focuses on a future child’s true risk of disease inheritance. GenePeeks offers this physician-ordered service through its CLIA certified clinical laboratory. About GenePeeks GenePeeks is a computational genomics company focused on identifying inherited disease risk in future generations. GenePeeks’ patented technology digitally combines the genetic information of two potential parents, simulating the complex genetic interactions that occur naturally in human reproduction. The company’s proprietary platform creates and analyzes thousands of Virtual Progeny to uncover disease risk that cannot be seen with alternative screening tools. GenePeeks offers this physician-ordered service through its CLIA certified clinical laboratory. GenePeeks is privately held, with corporate offices in Cambridge, Mass. For more information, visit www.genepeeks.com GenePeeks’ next-generation screening technology is available today. For more information about becoming a partner, please contact support@genepeeks.com About The World Egg Bank As the highly sought-after, first egg bank, The World Egg Bank (TWEB) is the premier center for egg vitrification. TWEB sets high industry standards for egg quality and in cultivating close relationships with egg donors, recipients, and clinics both domestically and internationally. TWEB’s singular focus on egg donation, operating out of a state of the art facility, has proven to further improve egg quality. By providing and maintaining quality controlled monitoring, procedures, and environment, The World Egg Bank has a record of high pregnancy rates supported by a large body of pregnancy data from clinics, large or small, around the world. TWEB’s expanded donor roster includes over 400 donors and currently holds thousands of frozen eggs available for immediate shipment. The World Egg Bank, headquartered in Phoenix, Arizona, is able to support egg donors, recipients, and clinics no matter the distance. For more information, visit www.theworldeggbank.com/ 1Saffi M, Howard N, Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review. Public Health Genomics 2015; 18:193-203.


CAMBRIDGE, Mass. & DUBAI, United Arab Emirates--(BUSINESS WIRE)--GenePeeks, Inc., a computational genomics company focused on transforming genetic disease risk analysis, and Alliance Global Group (AGBL) today announced a new partnership to bring GenePeeks’ Virtual Progeny Analytics (VPA) technology platform to select markets in the Middle East and Africa. AGBL is the largest biomedical gateway in these markets. This collaboration marks another international market for the GenePeeks Preconception Screen, which identifies combined parental risk of passing on more than 1,000 serious genetic diseases. Under the terms of the agreement, AGBL will expand its genetic testing by offering GenePeeks Preconception Screen to patients, healthcare providers and laboratories in the Middle East and Africa. AGBL will also introduce additional applications of GenePeeks’ technology through partnerships with centers of excellence throughout the region. “We are honored to partner with Alliance Global to address the significant unmet need in these markets for comprehensive preconception screening,” said Anne Morriss, Co-Founder and Chief Executive Officer of GenePeeks. “AGBL’s regional breadth and market knowledge, combined with the analytic power of our advanced computational platform, will give more prospective parents the information and support they need to protect their future families. AGBL is another strong partner for our growing presence outside of the U.S.” Dr. Tamer Degheidy, Group CEO at Alliance Global stated, “GenePeeks Preconception Screen is an important addition to our growing portfolio of genetic tests, and we’re excited to offer this comprehensive, state-of-the art approach, which reduces the population biases that are associated with traditional carrier screening. It is the first step in our shared mission to transform gene-based clinical applications using GenePeeks’ core technology platform.” About GenePeeks’ Technology GenePeeks’ comprehensive approach, called Virtual Progeny Analytics (VPA), uniquely integrates simulated DNA information from two genetic participants to predict the future genome of a child prior to conception. For every mutation in these hypothetical genomes, the company computes a proprietary Variant Gene Dysfunction (VGD) score that predicts gene function and associated disease risk. This next generation approach allows GenePeeks to cover an expanded number of diseases with increased sensitivity and evaluate variants that may remain uncharacterized by other genetic tests, while avoiding the confusion and anxiety that can be associated with carrier testing. In contrast to carrier screening, which identifies parental carrier status, GenePeeks focuses on a future child’s true risk of disease inheritance. GenePeeks offers this physician-ordered service through its CLIA certified clinical laboratory. About GenePeeks GenePeeks is a computational genomics company focused on identifying inherited disease risk in future generations. GenePeeks’ patented technology digitally combines the genetic information of two potential parents, simulating the complex genetic interactions that occur naturally in human reproduction. The company’s proprietary platform creates and analyzes thousands of Virtual Progeny to uncover disease risk that cannot be seen with alternative screening tools. GenePeeks offers this physician-ordered service through its CLIA certified clinical laboratory. GenePeeks is privately held, with corporate offices in Cambridge, Mass. For more information, visit www.genepeeks.com GenePeeks’ next-generation screening technology is available today. For more information about becoming a partner, please contact support@genepeeks.com About Alliance Global Group (AGBL) The AGBL Group of companies is the largest biomedical gateway to the emerging markets of the Middle East, Africa and Asia. The group is dedicated to bringing innovative technologies and products to researchers, clinicians, and diagnostic users in the emerging healthcare markets within the MENA region. The group employs dedicated teams of product and applications specialists, and has many offices across the region offering distribution, consulting and product development services to world-renowned manufacturers of biomedical technologies. The group’s stated mission is to improve the lives of the region’s inhabitants through novel biomedical technologies and products. For more information, please visit: www.agbl.net


News Article | September 27, 2017
Site: www.businesswire.com

CAMBRIDGE, Mass.--(BUSINESS WIRE)--GenePeeks, Inc., a computational genomics company focused on transforming genetic disease risk analysis, today announced a new partnership with Bioiatriki, a primary healthcare services provider with extensive diagnostic capabilities at its twenty-nine diagnostic centers across Greece and Cyprus. This new distribution agreement represents the latest step towards GenePeeks’ goal of making its next-generation preconception test available to families around the world. Unlike traditional carrier screening, GenePeeks Preconception Screen identifies the combined parental risk of passing on more than 1,100 serious genetic diseases. “ GenePeeks is delighted to add Bioiatriki to our growing list of global partners,” said Anne Morriss, Co-founder and Chief Executive Officer of GenePeeks. “ As one of the largest providers of laboratory services in the region, with a reputation for unrelenting clinical excellence, Bioiatriki is an ideal partner for our organization. With this agreement, we are continuing our international expansion and increasing access to our advanced analytics platform.” Dr. Evangelos Spanos, President and Chief Executive Officer of Bioiatriki stated, “ We welcome the addition of the GenePeeks Preconception Screen to our growing portfolio of innovative medical services. The ability to provide a comprehensive approach to preconception screening, which also reduces the population biases of traditional carrier screening, continues our commitment to bringing advanced technologies to our network of clinicians and the patients they serve.” About GenePeeks’ Screening Technology GenePeeks’ preconception screening technology uniquely integrates simulated DNA information from two genetic participants to predict the future genome of a child prior to conception. For every mutation in these hypothetical genomes, the company’s proprietary variant interpretation pipeline computes a Variant Gene Dysfunction (VGD) score that predicts gene function and associated disease risk. This automated, CLIA certified process allows GenePeeks to uncover disease risk with increased sensitivity and go beyond the limits of the clinical data to evaluate variants that may remain uncharacterized by other genetic tests. About GenePeeks GenePeeks is a computational genomics company focused on transforming how genetic disease risk is identified. GenePeeks’ patented technology simulates the complex genetic interactions that occur naturally in human reproduction and the inheritance of disease risk. The company’s next-generation approach addresses the primary challenges of genomic analysis today, including the pervasiveness of rare and novel disease-causing mutations, the high incidence of variants of uncertain significance (VUS), and the population bias embedded in clinical literature and databases. GenePeeks offers its physician-ordered services through its CLIA certified clinical laboratory. GenePeeks is privately held, with corporate offices in Cambridge, Mass. For more information, visit www.genepeeks.com GenePeeks’ next-generation screening technology is available today. For more information about becoming a partner, please contact support@genepeeks.com About Bioiatriki Bioiatriki was founded in 1981 by Dr. Evangelos Spanos and soon gained the trust of the medical community by providing high-quality, comprehensive medical services to all patients. Today, Bioiatriki has established itself as a leading primary healthcare services provider in Greece and Cyprus, with twenty-nine autonomous diagnostic centers that receive over two million patient visits per year. In addition to diagnostic laboratories, Bioiatriki also owns three clinics located in Athens, Piraeus, and Thessaloniki and employs over 2,000 employees, including 400 specialized physicians. Bioiatriki’s mission is to work tirelessly to further improve and upgrade healthcare services across Greece and Cyprus. For more information, visit www.bioiatriki.gr


Methods and systems for assessing the probabilities of the expression of one or more traits in progeny are described.


A device, system and method for predicting gene-dysfunction caused by a genetic mutation in the genome of an organism. A neural network may comprise multiple nodes respectively associated with multiple different gene-dysfunction metrics and multiple different confidence weights. The neural network may combine the multiple gene-dysfunction metrics according to the respective associated confidence weights to generate one or more likelihoods that a genetic mutation causes gene-dysfunction in organisms. In a training-phase, the neural network may be trained using an input data set including genetic mutations to generate new gene-dysfunction metrics and new associated confidence weights that optimize the neural network based on a cost factor. In a run-time phase, a genetic mutation may be identified and one or more likelihoods may be computed that the identified genetic mutation causes gene-dysfunction in the organism based on the new gene-dysfunction metrics and the associated new confidence weights of the neural network.


A system, device and method for receiving multiple aligned genetic sequences obtained from genetic samples of multiple organisms of one or more different species. A measure of evolutionary variation may be computed for one or more alleles at each of one or more aligned genetic loci. The aligned genetic loci in the multiple organisms may be derived from one or more common ancestral genetic loci or may be otherwise related. The measure of evolutionary variation may be a function of variation in alleles at corresponding aligned genetic loci in the multiple aligned genetic sequences. One or more likelihoods may be computed that an allele mutation at each of the one or more genetic loci in a simulated virtual progeny will be deleterious based on the measure of evolutionary variation of alleles at the corresponding aligned genetic loci for the multiple organisms.


A system, device and method for receiving multiple aligned genetic sequences obtained from genetic samples of multiple organisms of one or more different species. A measure of evolutionary variation may be computed for one or more alleles at each of one or more aligned genetic loci. The aligned genetic loci in the multiple organisms may be derived from one or more common ancestral genetic loci or may be otherwise related. The measure of evolutionary variation may be a function of variation in alleles at corresponding aligned genetic loci in the multiple aligned genetic sequences. One or more likelihoods may be computed that an allele mutation at each of the one or more genetic loci in a simulated virtual progeny will be deleterious based on the measure of evolutionary variation of alleles at the corresponding aligned genetic loci for the multiple organisms.


Methods and systems for assessing the probabilities of the expression of one or more traits in progeny are described.


In accordance with an embodiment of the invention, a system and method is provided for determining a probability of a progeny having one or more phenotypes Ph_(j )each associated with a single gene Q_(j). A score sip may be assigned to each allele hip at a plurality of genetic loci (i) in a haploid genome profile H^(p )of a parent (p). A plurality (Nj) of the alleles hkp (k=1, . . . , Nj) associated with the gene Q_(j )may be identified. The scores sip may be mapped or indexed to gene-specific scores j,kp associated with gene Q_(j )for the plurality of (Nj) alleles hkp. A probability may be computed for altering the gene product from gene Q_(j )in a progeny of the parent (p) to be a function of the gene-specific scores j,kp.

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