Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping Article Swipe

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M Kellis , L J Ko , Jiyae Lee , K. Eaton , Cassandra Calloway , Ashutosh Lal , Reena Das , Manu Jamwal , Christian López-Peña , Steven J. Mack ·

YOU? · · 2024 · Open Access · · DOI: https://doi.org/10.3325/cmj.2024.65.180

The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.

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In silico Haplotype DNA sequencing Computational biology Selection (genetic algorithm) Beta thalassemia Biology Sequence (biology) Genetics Bioinformatics Medicine Computer science Thalassemia Gene Genotype Machine learning

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Type: article
Language: en
Landing Page: http://doi.org/10.3325/cmj.2024.65.180
OA Status: diamond
References: 27
Related Works: 10
OpenAlex ID: https://openalex.org/W4399656507

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