Molecular karyotyping using an SNP array for genomewide genotyping

2004123 citationsJournal Articlebronze Open Access

Authors

Anita Rauch · Friedrich-Alexander-Universität Erlangen-Nürnberg

F Rüschendorf · Max Delbrück Center

J Huang

U Trautmann · Friedrich-Alexander-Universität Erlangen-Nürnberg

C Becker · Max Delbrück Center

C Thiel · Friedrich-Alexander-Universität Erlangen-Nürnberg

K W Jones

A Reis · Kraftanlagen (Germany)

P Nürnberg

Abstract

Deduction of reliable cut off levels for array peaks in our series of well characterised patients allows the use of the GeneChip Mapping 10K SNP array for performing rapid molecular karyotyping from small amounts of DNA for the detection of even subtle deletions and duplications with high sensitivity and specificity.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics

UN Sustainable Development Goals

Decent work and economic growth

Publication Details

Published in: Journal of Medical Genetics

Volume 41, Issue 12, pp. 916-922

DOI: 10.1136/jmg.2004.022855

Field-Weighted Citation Impact: 9.55