Výsledky vyhledávání - "Farrah, Khawaja"

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Autor: Zandra C. Deans, Anil Biricik, Martine De Rycke, Gary L. Harton, Miroslav Hornak, Farrah Khawaja, Céline Moutou, Jan Traeger‐Synodinos, Pamela Renwick

Objective: Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, whic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417eb81f65a16dda1afb286616a4b3a4
https://biblio.vub.ac.be/vubir/twelve-years-of-assessing-the-quality-of-preimplantation-genetic-testing-for-monogenic-disorders(70c133c4-a853-4ad5-8dd4-0dfb9a0ed4cd).html

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Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally

Autor: Ellis C Becking, Jasper Linthorst, Simon Patton, Weronika Gutowska-Ding, Rebecca Goodall, Farrah Khawaja, Fiona Morgan, Zandra Deans, Lyn S Chitty, Mireille N Bekker, Peter G Scheffer, Erik A Sistermans

Publikováno v: Clinical Chemistry, 69(2), 160-167
Becking, E C, Linthorst, J, Patton, S, Gutowska-Ding, W, Goodall, R, Khawaja, F, Morgan, F, Deans, Z, Chitty, L S, Bekker, M N, Scheffer, P G & Sistermans, E A 2023, ' Variability in Fetal Fraction Estimation : Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally ', Clinical Chemistry, vol. 69, no. 2, pp. 160-167 . https://doi.org/10.1093/clinchem/hvac207, https://doi.org/10.1093/clinchem/hvac207

Background Fetal fraction (FF) measurement is considered important for reliable noninvasive prenatal testing (NIPT). Using minimal FF threshold as a quality parameter is under debate. We evaluated the variability in reported FFs of individual samples

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8975efd7a85505fa8c02180ef7ce39a0
https://research.vumc.nl/en/publications/46b150cd-ce0e-4b4c-bcf8-f5480139a339

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Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme

Autor: Zandra C. Deans, Simon Patton, Farrah Khawaja, Stephanie Allen, Lyn S. Chitty, Ros Hastings, Weronika Gutowska‐Ding, Lucy Jenkins

Publikováno v: Prenatal Diagnosis

Objective To ensure accurate and appropriate reporting of non‐invasive prenatal testing (NIPT) results, the standard of testing should be measured and monitored by participation in external quality assessment (EQA) schemes. The findings from intern

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c45317201eb820ee64c16435af4905
https://doi.org/10.1002/pd.5438

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Autor: Ros Hastings, Erik A. Sistermans, Zandra C. Deans, Lucy Jenkins, Simon Patton, Stephanie Allen, Kathy Mann, Lyn S. Chitty, Farrah Khawaja

Publikováno v: Prenatal Diagnosis. 37:699-704

Objective NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::457d7ec7d6383fb4d8126addecd53bb3
https://doi.org/10.1002/pd.5068

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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants

Autor: Kim Brügger, Christophe Roos, Zandra C. Deans, Farrah Khawaja, Simon Patton, Christopher Boustred, Jukka Matilainen, Maria Weronika Gutowska-Ding, Jo Wook Ahn

Publikováno v: European Journal of Human Genetics

Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5218e9cc7a1ee4e5c78b7eb675914074
https://hdl.handle.net/11250/2760987

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Autor: Zandra C, Deans, Stephanie, Allen, Lucy, Jenkins, Farrah, Khawaja, Ros J, Hastings, Kathy, Mann, Simon J, Patton, Erik A, Sistermans, Lyn S, Chitty

Publikováno v: Prenatal Diagnosis

Objective Non‐invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d55f74700827d6010e7218615524d40f
https://pubmed.ncbi.nlm.nih.gov/28497584

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