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Record Nr. |
UNINA9910557725303321 |
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Autore |
Simón Carlos |
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Titolo |
EmbryoGenetics |
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Pubbl/distr/stampa |
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Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
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Descrizione fisica |
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1 online resource (176 p.) |
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Soggetti |
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Research and information: general |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Sommario/riassunto |
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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore's law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian |
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single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells' transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4-8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos. |
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2. |
Record Nr. |
UNINA9910337579703321 |
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Titolo |
Heterogeneous Data Management, Polystores, and Analytics for Healthcare : VLDB 2018 Workshops, Poly and DMAH, Rio de Janeiro, Brazil, August 31, 2018, Revised Selected Papers / / edited by Vijay Gadepally, Timothy Mattson, Michael Stonebraker, Fusheng Wang, Gang Luo, George Teodoro |
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Pubbl/distr/stampa |
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Cham : , : Springer International Publishing : , : Imprint : Springer, , 2019 |
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ISBN |
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Edizione |
[1st ed. 2019.] |
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Descrizione fisica |
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1 online resource (XII, 175 p. 181 illus., 37 illus. in color.) |
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Collana |
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Information Systems and Applications, incl. Internet/Web, and HCI, , 2946-1642 ; ; 11470 |
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Disciplina |
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Soggetti |
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Application software |
Computer and Information Systems Applications |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Nota di contenuto |
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An Improved BigDAWG Architecture -- Multi-Model Database Management Systems - a Look Forward -- Progressive Interactions Between Data Sources -- TDM: A Tensor Data Model for Logical Data Independence in Polystore Systems -- Sketching data structures for massive graph problems -- Managing Structurally Heterogeneous Databases in Software Product Lines -- PDSPTF: Polystore Database System for Scalability and Access to PTF Time-domain Astronomy Data Archives -- API Federation in the BigDAWG Polystore -- Augmented Therapy with Online Support Groups -- RHCS - A Clinical Recommendation System for Geriatric Patients -- Implementation of a Medical Coding Support System by Combining Approaches: NLP and Machine Learning -- Building a Research-Quality Copy Number Variation Data Repository for Translational Research -- Data-Driven Genomic Computing: Making Sense of the Signals from the Genome -- DEAME - Differential Expression Analysis Made Easy. |
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Sommario/riassunto |
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This book constitutes the refereed post-conference proceedings of International Workshops: Polystores and other Systems for Heterogeneous Data, Poly 2018, and Data Management and Analytics |
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for Medicine and Healthcare, DMAH 2018, in Rio de Janeiro, Brazil, in August 2018, held in conjunction with the 44th International Conference on Very Large Data Bases, VLDB 2018. The 11 regular papers presented together with 2 invited papers and 1 abstract of a keynote talk were carefully reviewed and selected from 16 initial submissions. The Poly 2018 Workshop focus on growing a larger and more diverse research agenda around data system solutions for heterogeneous data. The DMAH 2018 Workshop aims to foster exchange of information and discussions on innovative data management and analytics technologies. |
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