Protocol detail

Chromosome Analysis of Blood Lymphocytes

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Karyotyping of peripheral blood lymphocytes was performed using standard methods. Genomic DNA of individuals from Families A-C was tested using Human CytoSNP-12 BeadChips (~300 K; Illumina, San Diego, CA, USA). Array data were analysed using GenomeStudio (Illumina) and QuantiSNP
[28 (link)]. FISH employed standard protocols and various combinations of probes listed in Table
1. The study used genome build hg19.

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Drabova J., Trkova M., Hancarova M., Novotna D., Hejtmankova M., Havlovicova M, & Sedlacek Z. (2014). A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications. Molecular Cytogenetics, 7, 51.

Publication 2014

Human CytoSNP-12 BeadChips GenomeStudio QuantiSNP

Blood Fish Genome Human Lymphocytes

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Variable analysis

independent variables

Genomic DNA of individuals from Families A-C

dependent variables

Karyotyping of peripheral blood lymphocytes
Array data analysis using GenomeStudio (Illumina) and QuantiSNP

control variables

Standard methods used for karyotyping of peripheral blood lymphocytes
Standard protocols used for FISH analysis with various combinations of probes listed in Table 1

positive controls

Not explicitly mentioned

negative controls

Not explicitly mentioned

Annotations

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