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1.
Am J Hum Genet ; 109(11): 1960-1973, 2022 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-36332611

RESUMO

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing. This information was used to define key needs and solutions required to enable national sharing of variant interpretations. The Shariant platform, using both the GRCh37 and GRCh38 genome builds, was developed to enable ongoing sharing of variant interpretations and associated evidence between Australian clinical genetic-testing laboratories. Where possible, two-way automated sharing was implemented so that disruption to laboratory workflows would be minimized. Terms of use were developed through consultation and currently restrict access to Australian clinical genetic-testing laboratories. Shariant was designed to store and compare structured evidence, to promote and record resolution of inter-laboratory classification discrepancies, and to streamline the submission of variant assertions to ClinVar. As of December 2021, more than 14,000 largely prospectively curated variant records from 11 participating laboratories have been shared. Discrepant classifications have been identified for 11% (28/260) of variants submitted by more than one laboratory. We have demonstrated that co-design with clinical laboratories is vital to developing and implementing a national variant-interpretation sharing effort. This approach has improved inter-laboratory concordance and enabled opportunities to standardize interpretation practices.


Assuntos
Bases de Dados Genéticas , Laboratórios , Humanos , Variação Genética , Austrália , Testes Genéticos
2.
J Agric Food Chem ; 51(1): 76-81, 2003 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-12502388

RESUMO

Backhousia citriodora products are used as bushfoods and flavorings and by the aromatherapy industry. The antimicrobial activity of 4 samples of B. citriodora oil, leaf paste, commercial tea (0.2 and 0.02 g/mL), and hydrosol (aqueous distillate) were tested against 13 bacteria and 8 fungi. Little or no activity was found to be associated with the leaf tea and hydrosol, respectively. Leaf paste displayed antimicrobial activity against 7 bacteria including Clostridium perfringens, Pseudomonas aeruginosa, and a hospital isolate of methicillin resistant Staphylococcus aureus (MRSA). The 4 essential oils were found to be effective antibacterial and antifungal agents; however, variation was apparent between oils that did not correlate with citral content. The antimicrobial activity of B. citriodoraessential oils was found to be greater than that of citral alone and often superior to Melaleuca alternifolia essential oil. B. citriodora has significant antimicrobial activity that has potential as an antiseptic or surface disinfectant or for inclusion in foods as a natural antimicrobial agent.


Assuntos
Antibacterianos/farmacologia , Antifúngicos/farmacologia , Myrtaceae/química , Óleos Voláteis/farmacologia , Folhas de Planta/química , Antibacterianos/análise , Antifúngicos/análise , Bebidas/análise , Clostridium perfringens/efeitos dos fármacos , Extratos Vegetais/farmacologia , Pseudomonas aeruginosa/efeitos dos fármacos , Staphylococcus aureus/efeitos dos fármacos , Óleo de Melaleuca/farmacologia
3.
J Med Food ; 6(1): 57-61, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12804021

RESUMO

Increasing interest in the health benefits of various culinary berries has led to investigation of their antibacterial activity. Commercial raspberry, blackcurrant, cranberry, and blackberry cordials (100% fruit) as well as fresh berries were assessed for their ability to inhibit the growth of various bacteria and the yeast Candida albicans. Three of the six raspberry cordials and the blackcurrant cordial inhibited all 12 bacteria and C. albicans at dilutions of 1:5. Bacteria showed varying susceptibilities to the remaining cordials. All cordials inhibited the growth of Mycobacterium phlei. Of the fresh berries, mulberries and boysenberries did not inhibit any bacteria, and the remaining berries inhibited the growth of varying numbers of bacteria. There was no correlation between gram-positive or gram-negative bacterial status and susceptibility to the berries. It is suggested that the antibacterial activity of these berries may be of benefit as a means of water purification for suspect water supplies or to enhance shelf life when incorporated into food products.


Assuntos
Anti-Infecciosos , Frutas , Antibacterianos , Bactérias , Bebidas , Candida albicans , Frutas/química , Mycobacterium phlei , Ribes , Rosácea , Vaccinium macrocarpon
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