Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology Article Swipe

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Yibo Chen , Yu Qi , Ge Li‐Sha , Lichun Weng , Xiaoli Pan , Xiaoxia Zhou , Nani Zhou , Yanjie Wang , Jia Jia , Haibo Li ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.2147/rmhp.s514355

In genetic testing, particularly when addressing misalignment challenges associated with highly homologous genes such as CYP21A2, application of the HSA algorithm enables accurate mutation detection using commonly employed short-read sequencing methods. Through the characterization of homologous sequence features and optimization of the HSA algorithm, accurate mutation detection can be achieved in more homologous gene families (eg, HBA1/HBA2, SMN1/SMN2, GBA/GBAP1).

Related Topics

Fibonacci Sequence

The Human Centipede (First Sequence)

The Human Centipede 2 (Full Sequence)

The Human Centipede 3 (Final Sequence)

Main Sequence

G-Type Main-Sequence Star

Sequence (Game)

Nucleic Acid Sequence

K-Type Main-Sequence Star

The Dark Is Rising Sequence

Non-Homologous End Joining

Consensus Sequence

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Type: article
Language: en
Landing Page: https://doi.org/10.2147/rmhp.s514355
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Title: Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology

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Authors: Yibo Chen, Yu Qi, Ge Li‐Sha, Lichun Weng, Xiaoli Pan, Xiaoxia Zhou, Nani Zhou, Yanjie Wang, Jia Jia, Haibo Li

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abstract_inverted_index.mutation	23, 45
abstract_inverted_index.sequence	36
abstract_inverted_index.testing,	2
abstract_inverted_index.algorithm	20
abstract_inverted_index.detection	24, 46
abstract_inverted_index.HBA1/HBA2,	56
abstract_inverted_index.SMN1/SMN2,	57
abstract_inverted_index.addressing	5
abstract_inverted_index.algorithm,	43
abstract_inverted_index.associated	8
abstract_inverted_index.challenges	7
abstract_inverted_index.homologous	11, 35, 52
abstract_inverted_index.sequencing	29
abstract_inverted_index.short-read	28
abstract_inverted_index.GBA/GBAP1).	58
abstract_inverted_index.application	16
abstract_inverted_index.misalignment	6
abstract_inverted_index.optimization	39
abstract_inverted_index.particularly	3
abstract_inverted_index.characterization	33
cited_by_percentile_year
countries_distinct_count	1
institutions_distinct_count	10
citation_normalized_percentile.value	0.41194517
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False