Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

Ann Lab Med. 2024 Nov 1;44(6):617-620. doi: 10.3343/alm.2024.0051. Epub 2024 May 31.

Paola Concolino^{1

2}, Elisa De Paolis^{1

2}, Martina Rinelli^{1

2}, Giulia Maneri^{1

2}, Francesca Brisighelli^{1

2}, Rita Trozzi³, Simona Duranti⁴, Luciano Giacò⁵, Maria Piane^{6

7}, Alessia Preziosi⁵, Arianna Panfili⁴, Giovanni Scambia^{3

8}, Camilla Nero³, Maria De Bonis^{1

2}, Angelo Minucci^{1

2}

¹ Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
² Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
³ Department of Woman, Child and Public Health, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
⁴ Scientific Directorate, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
⁵ Bioinformatics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
⁶ Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
⁷ S. Andrea University Hospital, Rome, Italy.
⁸ Institute of Obstetrics and Gynecology, Catholic University of the Sacred Heart, Rome, Italy.

No abstract available

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