ListarGrupos de investigación por tema "Sequence analysis"
Mostrando ítems 1-2 de 2
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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
(Hindawi, 2018)[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ... -
SMusket: Spark-based DNA error correction on distributed-memory systems
(Elsevier B.V., 2020)[Abstract]: Next-Generation Sequencing (NGS) technologies have revolutionized genomics research over the last decade, bringing new opportunities for scientists to perform groundbreaking biological studies. Error correction ...