Article
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Blood - 30 May 2013
Chandrasekharappa Settara C, Lach Francis P, Kimble Danielle C, Kamat Aparna, Teer Jamie K, Donovan Frank X, Flynn Elizabeth, Sen Shurjo K, Thongthip Supawat, Sanborn Erica, Smogorzewska Agata, Auerbach Arleen D, Ostrander Elaine A
Abstract excerpt
Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligos to capture and sequence FA and related genes, including introns, from 27 samples from the International Fanconi...
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