Genetic diagnosis of Mendelian disorders via RNA sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/ncomms15824
Abstract: Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable… read more here.
Keywords: mendelian disorders; genetic diagnosis; disorders via; diagnosis mendelian ... See more keywords
Events of alternative splicing in head and neck cancer via RNA sequencing – an update
Sign Up to like & getrecommendations! Published in 2019 at "BMC Genomics"
DOI: 10.1186/s12864-019-5794-y
Abstract: BackgroundAlternative splicing (AS) is a regulatory mechanism used to create many forms of mature messengers RNAs (mRNAs) from the same gene. Sequencing of RNA (RNA-Seq) is an advanced technology, which has been utilized by different… read more here.
Keywords: neck cancer; rna; head neck; rna seq ... See more keywords