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HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING

2024-11-15

Abstract excerpt

The gene CYP21A2, mapped to the RCCX module in 6p21.3, is responsible for the 21-hydroxylase deficiency (21OHD). In this work, we used Oxford Nanopore Technology (ONT) Long Reads (LR) sequencing to analyze samples from a large Argentinian cohort of 21OHD. Our goal was to gain additional information about the GVs involved in the rearrangements, to obtain higher resolution for the breakpoints of converted alleles an...

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Literature Corpus work: 4d5a82dd-dd83-553d-b762-e12f5a345c14
DOI: 10.1101/2024.11.14.24317161

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HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCINGDOI 10.1101/2024.11.14.24317161Read

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