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How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios.

Neurology India - 1 Jan 2000

Srivastava Priyanka, Chaudhry Chakshu, Kaur Anupriya, Phadke Shubha R, Panigrahi Inusha

Abstract excerpt

Background: Cytogenetic microarray (CMA) has brought a revolution in the field of cytogenetics by improving resolution by 500 times that of traditional karyotyping. Analysis and interpretation of whole genome copy number variations (CNVs) is quite a challenging task for clinicians. Some software packages and databases are available which are based on algorithm. However, there is no clear rule to decide the...

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PMID: 35263867
DOI: 10.4103/0028-3886.338651

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