Open AccessA novel custom resequencing array for dilated cardiomyopathy
Author(s) -
Rebekah Zimmerman,
Stephanie Cox,
Neal K. Lakdawala,
Allison L. Cirino,
Debora ManciniDiNardo,
Eugene Clark,
Annette Leon,
Elizabeth Hynes,
Emily White,
Samantha Baxter,
Manal Alaamery,
Lisa Farwell,
Scott L. Weiss,
Christine E. Seidman,
Jonathan G. Seidman,
Carolyn Y. Ho,
Heidi L. Rehm,
Birgit H. Funke
Publication year - 2010
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1097/gim.0b013e3181d6f7c0
Subject(s) - sanger sequencing , genotyping , dilated cardiomyopathy , proband , genetic testing , locus (genetics) , medicine , gene , genetics , copy number variation , computational biology , bioinformatics , dna sequencing , biology , mutation , genotype , genome , heart failure
Genetic tests for the most commonly mutated genes in dilated cardiomyopathy (DCM) can confirm a clinical diagnosis in the proband and inform family management. Presymptomatic family members can be identified, allowing for targeted clinical monitoring to minimize adverse outcomes. However, the marked locus and allelic heterogeneity associated with DCM have made clinical genetic testing challenging. Novel sequencing platforms have now opened up avenues for more comprehensive diagnostic testing while simultaneously decreasing test cost and turn around time.
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