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KMID : 1189120230200010001
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대한의학유전학회지
2023 Volume.20 No. 1 p.1 ~ p.5
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Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
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Choi Yeon-Song
Choi David Whee-Young
Lee Se-Min
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Abstract
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Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene panels using diagnostic nextgeneration sequencing in association with patient phenotypes. However, several recent studies reported that the detection rate hardly exceeds 50% even when whole-exome sequencing is applied. Therefore, the necessity of introducing wholegenome sequencing is emerging to discover more diverse genomic variants and examine their association with rare diseases.
When no diagnosis is provided by whole-genome sequencing, additional omics techniques such as RNA-seq also can be considered to further interrogate causal variants. This paper will introduce a description of these multi-omics techniques and their applications in rare disease studies.
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KEYWORD
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Rare diseases, Multi-omics, Exome sequencing, Whole genome sequencing, RNA sequencing, Bisulfite sequencing, ATAC-seq
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FullTexts / Linksout information
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Listed journal information
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