Chunk #15 — Statistical Methods — CNV discovery and validation — Clinical identification of 16p11.2 deletions

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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All diagnostic procedures (aCGH, qPCR, QMPSF, FISH) were carried out according to the relevant guidelines of good clinical laboratory practice for the respective countries. All rearrangements in probands were confirmed by a second technique and karyotyping was performed in all cases to exclude a complex rearrangement.