Study

The Xq22.3 contiguous gene deletion syndrome (ATS-ID)

Study ID Alternative Stable ID Type
EGAS00001005354 Exome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001007740
Approximately 200 ng of high-quality of genomic DNA samples were used for library preparation. DNA libraries were prepared using the Human Core Exome Kit according to manufacturer’s recommendations (Twist Bioscience, San Francisco, CA, USA) and then sequenced on Illumina NovaSeq 6000 (Illumina, Inc., san Diego, CA, USA). Detailed protocol of WES data processing and variant analysis are available in Supplementary data.
Illumina NovaSeq 6000 3

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