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621por Sachdev, Rani, Field, Mike, Baynam, Gareth S, Beilby, John, Berarducci, Maria, Berman, Yemima, Boughtwood, Tiffany, Cusack, Marie B, Fitzgerald, Vanessa, Fletcher, Jeffery, Freckmann, Mary‐Louise, Grainger, Natalie, Kirk, Edwin, Lundie, Ben, Lunke, Sebastian, McGregor, Lesley, Mowat, David, Parasivam, Gayathri, Tyrell, Vanessa, Wallis, Mathew, White, Susan M, S L Ma, Alan“…This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. …”
Publicado 2021
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622por Serpico, Davide“…Since the GSA was the largest scientific society of geneticists in the world, many expected the document to be of central importance in settling the controversy. …”
Publicado 2021
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623por Dal Buono, Arianna, Gaiani, Federica, Poliani, Laura, Correale, Carmen, Laghi, Luigi“…This specific set of tumors has been initially perceived as a niche for geneticists or gastroenterologists focused on inherited predispositions. …”
Publicado 2021
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624por Gopalan, Shyamalika, Smith, Samuel Pattillo, Korunes, Katharine, Hamid, Iman, Ramachandran, Sohini, Goldberg, Amy“…Over the past 50 years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, ‘The Apportionment of Human Diversity’. …”
Publicado 2022
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625“…The technique introduced here should be a valuable asset to those who use acoustic data to address evolution, ecology, or conservation, and creates a methodological and conceptual bridge between geneticists and acousticians who aim to assess population structure.…”
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626por Parente, Paola, Pastore, Maria, Grillo, Federica, Fassan, Matteo, Francalanci, Paola, Dirodi, Angelica, Rossi, Chiara, Arpa, Giovanni, De Angelis, Paola, Gullo, Irene, Mastracci, Luca, Alaggio, Rita, Vanoli, Alessandro“…For these reasons, an adequate context leading to an appropriate diagnosis is imperative, calling for a close collaboration between pediatricians, pathologists, geneticists, and immunologists.…”
Publicado 2021
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627“…Finally, we briefly reconstruct some of the biases of reductionism to which geneticists (as well as other researchers referring to genetic methods and explanations) are particularly exposed to, and we analyse the problem in the context of the biologization of ethnoracial categories. …”
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628“…These data are critical for individuals and families impacted by these RNDDs, clinicians and geneticists in their understanding of how common diseases are, and for researchers to potentially prioritize research into particular genes or gene sets.…”
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629por Martínez-Barrios, Estefanía, Grassi, Simone, Brión, María, Toro, Rocío, Cesar, Sergi, Cruzalegui, José, Coll, Mònica, Alcalde, Mireia, Brugada, Ramon, Greco, Andrea, Ortega-Sánchez, María Luisa, Barberia, Eneko, Oliva, Antonio, Sarquella-Brugada, Georgia, Campuzano, Oscar“…The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.…”
Publicado 2023
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630por Leeb, Tosso“…Dogs have not only become human’s best friend but were also described as geneticists’ best friend in a past issue of Science. …”
Publicado 2023
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631“…CONCLUSION: htSNPer1.0 allows molecular geneticists to perform haplotype block analysis and htSNPs selection using different definitions and performance criteria. …”
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632“…However, the goals of gene therapy and functional genomics are entirely different; gene therapists hope to avoid altering endogenous gene expression (especially the activation of oncogenes), whereas geneticists do want to alter expression of chromosomal genes. …”
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633“…The detection of gene - gene and gene - environment interactions associated with complex human disease or pharmacogenomic endpoints is a difficult challenge for human geneticists. Unlike rare, Mendelian diseases that are associated with a single gene, most common diseases are caused by the non-linear interaction of numerous genetic and environmental variables. …”
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634por Benston, Shawna“…Finally, I will argue that RGTs must be thoughtfully regulated, with such regulations taking into account the opinions of geneticists, bioethicists, and lay people concerning both the right to health and the right to disability.…”
Publicado 2016
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635por Dong, Changzheng“…It bridges upstream raw genotyping data with downstream genetic programs, and can act as an in-hand toolkit for human geneticists, especially for non-programmers. SNPTransformer is freely available at http://snptransformer.sourceforge.net.…”
Publicado 2010
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636“…This paper is a response to the growing reference to archaeological evidence by linguists and geneticists interested in the spread of early farmers and pastoralists in southern Africa. …”
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637“…However, in Drosophila, this model has long eluded fly geneticists. In this issue of PLOS Biology, Pais and colleagues present the most rigorous and comprehensive demonstration to date that persistence and gut residency do take place in the digestive tract of Drosophila melanogaster. …”
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638“…Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. …”
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639“…We suggest that the importance of lncRNAs in disease causation and progression be taken as seriously as that of pathogenic protein variants and mutations, and that this is maybe a new area of attention for clinical geneticists.…”
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640por Mariath, Luiza Monteavaro, Santin, Juliana Tosetto, Schuler-Faccini, Lavínia, Kiszewski, Ana Elisa“…For this reason, dermatologists and geneticists regularly review and update the classification criteria. …”
Publicado 2020
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