Computational protocol: DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

Similar protocols

Protocol publication

[…] Individuals 1–93 were screened for copy number variations (CNVs) using the Omni1-Quad v1.0 array (Illumina, San Diego, CA) and analyzed using GenomeStudio version 2011.1. CNV calling was performed with QuantiSNP 2.2 () and cnvPartition 3.2.0 (Illumina). Syndromic patient 95 was tested by array CGH using the Agilent 4x180K (Agilent Technologies, Santa Clara, CA) platform. Individual 94 was tested for STRC CNVs by quantitative real-time PCR (qPCR), using unique STRC exon 22 primers excluding the pseudogene (, Supporting Information; exon 22 primers without M13 tags) and the SensiMix SYBR Green Kit (Bioline, Luckenwalde, Germany). […]

Pipeline specifications

Software tools GenomeStudio, QuantiSNP
Application aCGH data analysis
Organisms Homo sapiens
Chemicals Amino Acids