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.

Authors :: Concolino P
De Paolis E
Rinelli M
Maneri G
Brisighelli F
Trozzi R
Duranti S
Giacò L
Piane M
Preziosi A
Panfili A
Scambia G
Nero C
De Bonis M
Minucci A
Source :: Annals of laboratory medicine [Ann Lab Med] 2024 Nov 01; Vol. 44 (6), pp. 617-620. Date of Electronic Publication: 2024 May 31.
Publication Year :: 2024

Subjects :: Humans
Female
Algorithms
Homologous Recombination
Breast Neoplasms genetics
Breast Neoplasms diagnosis
False Positive Reactions
Sequence Analysis, DNA
High-Throughput Nucleotide Sequencing
BRCA1 Protein genetics
DNA Copy Number Variations
Multiplex Polymerase Chain Reaction

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