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

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

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

Publications	Citations
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype. Smetana J, Vallova V, Wayhelova M, Hladilkova E, Filkova H, Horinova V, Broz P, Mikulasova A, Gaillyova R, Kuglík P. Front Genet 12: 2021 750110	5