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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2013
Soggetti:
Red Cells, Iron, and Erythropoiesis
Accesso online: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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