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601por Clima, Rosanna, Preste, Roberto, Calabrese, Claudia, Diroma, Maria Angela, Santorsola, Mariangela, Scioscia, Gaetano, Simone, Domenico, Shen, Lishuang, Gasparre, Giuseppe, Attimonelli, Marcella“…The database is intended to support both population geneticists as well as clinicians undertaking the task to assess the pathogenicity of specific mtDNA mutations. …”
Publicado 2017
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602por Robert, Cyrille, Pasquier, Laurent, Cohen, David, Fradin, Mélanie, Canitano, Roberto, Damaj, Léna, Odent, Sylvie, Tordjman, Sylvie“…The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. …”
Publicado 2017
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603“…The geographic distribution of a genetic variant can also be of great utility for medical/clinical geneticists and collectively many genetic variants can reveal population structure. …”
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604por Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph“…After initial bioinformatic data processing, the interactive analysis of genome, exome, and panel sequencing data typically starts from lists of genetic variants in VCF format. Medical geneticists filter and annotate these lists to identify variants that may be relevant for the disease under investigation, or to select variants that are reported in a clinical diagnostics setting. …”
Publicado 2017
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605por Neale, David B., McGuire, Patrick E., Wheeler, Nicholas C., Stevens, Kristian A., Crepeau, Marc W., Cardeno, Charis, Zimin, Aleksey V., Puiu, Daniela, Pertea, Geo M., Sezen, U. Uzay, Casola, Claudio, Koralewski, Tomasz E., Paul, Robin, Gonzalez-Ibeas, Daniel, Zaman, Sumaira, Cronn, Richard, Yandell, Mark, Holt, Carson, Langley, Charles H., Yorke, James A., Salzberg, Steven L., Wegrzyn, Jill L.“…This reference genome sequence not only provides an important resource for Douglas-fir breeders and geneticists but also sheds additional light on the evolutionary processes that have led to the divergence of modern angiosperms from the more ancient gymnosperms.…”
Publicado 2017
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606por Tripathy, Kabita, Singh, Balwant, Singh, Nisha, Rai, Vandna, Misra, Gauri, Singh, Nagendra Kumar“…The information provided in the IWR Database will be useful for the rice geneticists and breeders for improvement of rice cultivars for yield, quality and resilience to climate change. …”
Publicado 2018
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607“…CONCLUSIONS: We demonstrate that our approach can help plant geneticists working with autopolyploid species to advance their studies by distinguishing allele dosage from GBS data. …”
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608por Schlautman, Brandon, Fajardo, Diego, Bougie, Tierney, Wiesman, Eric, Polashock, James, Vorsa, Nicholi, Steffan, Shawn, Zalapa, Juan“…This comprehensive collection of developed and validated microsatellite loci represents a substantial addition to the molecular tools available for geneticists, genomicists, and breeders in cranberry and Vaccinium.…”
Publicado 2015
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609por Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia“…Mutations reported here could help clinicians and geneticists in NM diagnosis.…”
Publicado 2018
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610“…BACKGROUND: Balancer chromosomes are tools used by fruit fly geneticists to prevent meiotic recombination. Recently, CRISPR/Cas9 genome editing has been shown capable of generating inversions similar to the chromosomal rearrangements present in balancer chromosomes. …”
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611“…Here, we provide an overview of PRS in general terms (including a glossary suitable for informed non-geneticists) and discuss the use of PRS in psychiatry, including their limitations and cautions for interpretation, as well as their applications now and in the future.…”
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612por Wajner, Moacir, Sitta, Angela, Kayser, Aline, Deon, Marion, Groehs, Ana C., Coelho, Daniella M., Vargas, Carmen R.“…The obtained data may help pediatricians and metabolic geneticists to become aware of these diseases and possibly expand newborn screening programs in the future.…”
Publicado 2019
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613por Sanderson, Lacey-Anne, Caron, Carolyn T., Tan, Reynold, Shen, Yichao, Liu, Ruobin, Bett, Kirstin E.“…KnowPulse (https://knowpulse.usask.ca) is a breeder-focused web portal for pulse breeders and geneticists. With a focus on diversity data, KnowPulse provides information on genetic markers, sequence variants, phenotypic traits and germplasm for chickpea, common bean, field pea, faba bean, and lentil. …”
Publicado 2019
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614por Fernández-Calleja, Miriam, Monteagudo, Arantxa, Casas, Ana M., Boutin, Christophe, Pin, Pierre A., Morales, Fermín, Igartua, Ernesto“…We found differences among the genotypic sets that are relevant for plant breeders and geneticists. Hybrids showed lower leaf temperature differential and higher non-photochemical quenching, resembling closer the male parents. …”
Publicado 2020
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615Contributions of pediatrics and pediatric pathology to the body of knowledge regarding human disease“…The latter were applied in a synergistic fashion to a major extent in maternity clinics and children's hospitals by, among others, molecular biologists, clinical geneticists, cytogeneticists, pediatricians, and pediatric pathologists. …”
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616“…It is imperative for clinical geneticists and their patients to understand that NIPT is still a screening test.…”
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617“…Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas gene editing systems have enabled molecular geneticists to manipulate prokaryotic and eukaryotic genomes with greater efficiency and precision. …”
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618por Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella“…A network of second opinion was implemented among clinical geneticists first, and a diagnosis of Koolen De Vries syndrome was considered unlikely. …”
Publicado 2020
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619por Saura, Anssi“…A belated defense of eugenics published in 1951 did not help; geneticists had abandoned anthropometrics for good around the year 1940 and eugenics about a decade later. …”
Publicado 2020
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620“…In this study, we provide guidelines for plant geneticists and breeders to access trustworthy pairwise relatedness estimates. …”
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