The Challenges in Classifying Fusion Transcripts [POSTER]

Zandra Deans, Pauline Rehal, Hood Mugalaasi and Jennifer Fairley.
Association for Molecular Pathology (AMP2022), Phoenix, Arizona, USA.

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

Becking EC, Linthorst J, Patton S, Gutowska-Ding W, Goodall R, Khawaja F, Morgan F, Deans Z, Chitty LS, Bekker MN, Scheffer PG, Sistermans EA. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. Clin Chem. 2022 Dec 28:hvac207. doi: 10.1093/clinchem/hvac207. Epub ahead of print. PMID: 36576352.

External quality assessment (EQA) for tumor mutational burden: results of an international IQN path feasibility pilot scheme.

Esposito Abate, R., Cheetham, M.H., Fairley, J.A. et al. External quality assessment (EQA) for tumor mutational burden: results of an international IQN path feasibility pilot scheme. Virchows Arch (2022). https://doi.org/10.1007/s00428-022-03444-y

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

Deans ZC, Biricik A, De Rycke M, Harton GL, Hornak M, Khawaja F, Moutou C, Traeger-Synodinos J, Renwick P. Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders. Prenat Diagn. 2022 Nov 12. doi: 10.1002/pd.6263. Epub ahead of print. PMID: 36371615.

International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients

Van den Veyver IB, Yaron Y, Deans ZC. International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients. Prenat Diagn. 2022 Oct 11. doi: 10.1002/pd.6247. Epub ahead of print. PMID: 36221164.