2D Graphical Representation of DNA Sequences Based on Variant Map
Sign Up to like & getrecommendations! Published in 2020 at "IEEE Access"
DOI: 10.1109/access.2020.3025591
Abstract: Mining and analyzing the information and structure of DNA sequences is an important method of exploring and explaining the mysteries of biology. In addition to traditional biological detection methods for DNA sequences, technological advances have… read more here.
Keywords: graphical representation; representation dna; dna; variant map ... See more keywords
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108307
Abstract: Background Whole-exome sequencing-based diagnosis of rare diseases typically yields 40%–50% of success rate. Precise diagnosis of the patients with neuromuscular disorders (NMDs) has been hampered by locus heterogeneity or phenotypic heterogeneity. We evaluated the utility… read more here.
Keywords: transcriptome based; aberrant splicing; rna seq; based variant ... See more keywords