Identifying disease-causing mutations in genomes of single patients by computational approaches
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02179-7
Abstract: Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a… read more here.
Keywords: disease causing; causing mutations; genomes single; mutations genomes ... See more keywords
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0036-2
Abstract: PurposeWe evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM).MethodsCardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified… read more here.
Keywords: disease causing; identifying disease; disease; level ... See more keywords
Unlocking the Potential of the Human Microbiome for Identifying Disease Diagnostic Biomarkers
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12071742
Abstract: The human microbiome encodes more than three million genes, outnumbering human genes by more than 100 times, while microbial cells in the human microbiota outnumber human cells by 10 times. Thus, the human microbiota and… read more here.
Keywords: human microbiome; diagnostic biomarkers; microbiome identifying; microbiome ... See more keywords