Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Laura M SackLauren MertensElissa MurphyLaura HutchinsonAnne B S GierschHeather Mason-SuaresPublished in: Clinical chemistry (2023)
Manual analysis of clusters containing unique CMA probes without significant pseudogene homology improves CNV detection and zygosity assignment in the highly homologous DIS region. Incorporation of this method into CMA analysis and reporting processes can improve DIS diagnosis and carrier detection.
Keyphrases
- copy number
- mitochondrial dna
- small molecule
- dna repair
- dna damage
- genome wide
- loop mediated isothermal amplification
- fluorescence imaging
- label free
- real time pcr
- dna methylation
- living cells
- single molecule
- emergency department
- photodynamic therapy
- adverse drug
- type diabetes
- electronic health record
- bioinformatics analysis
- data analysis
- fluorescent probe
- skeletal muscle