Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

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 oligo...

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Main Authors: 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.
格式: Artigo
語言:Inglês
出版: American Society of Hematology 2013
主題:
Red Cells, Iron, and Erythropoiesis
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3668494/
https://ncbi.nlm.nih.gov/pubmed/23613520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-12-474585
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