How to understand ISCA database

This article introduces you how to understand the ISCA database, the content is very detailed, interested friends can refer to, hope to be helpful to you.

The full name of ISCA is as follows

International Standards for Cytogenomic Arrays

Is a committee made up of chip sequencing manufacturers and university laboratories with the following objectives

Provide a standard for chromosome microarray chip design

Provide an international and open database to store phenotype-related CNV information for researchers and clinicians to view

Provide a standard for interpreting the results of CMA analysis

The chromosome microarray chips used in this database are summarized as follows

The data can be downloaded through the dbVar database, as shown below

Download the corresponding Variant Calls. The pathogenicity of CNV in this database is divided into the following three categories.

Pathogenic

Likely pathogenic

Benign

Uncertaion signigicance

CNV, which is pathogenic, possibly pathogenic, benign and with unclear clinical significance, is also referred to in the subsequent classification of the clinical significance of CNV.

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