Importance of using new and multiple interpretive tools and algorithms in genetic variants with extremely low population frequency

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder presenting in heterozygous (HeFH) and homozygous (HoFH) forms.

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Publication Details

Published
2024-12-23
DOI
https://doi.org/10.52768/annprecisionmed/1002
Primary Topic
Genetics, Bioinformatics, and Biomedical Research
Type
article
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article

Importance of using new and multiple interpretive tools and algorithms in genetic variants with extremely low population frequency

Ana Katerin Minota Idarraga
Genetics, Bioinformatics, and Biomedical Research
article

Importance of using new and multiple interpretive tools and algorithms in genetic variants with extremely low population frequency

Ana Katerin Minota Idarraga
article en

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder presenting in heterozygous (HeFH) and homozygous (HoFH) forms.

Vol. 1(1)
Openalex Percentile: Top 77%
Genetics, Bioinformatics, and Biomedical Research
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Importance of using new and multiple interpretive tools and algorithms in genetic variants with extremely low population frequency — Ana Katerin Minota Idarraga · (2024) | TGRS Research Map | TGRS