Clinical Exome Studies Have Inconsistent Coverage.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical chemistry"
DOI: 10.1093/clinchem.2019.306795
Abstract: BACKGROUND Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has surveyed and compared the data… read more here.
Keywords: studies inconsistent; exome studies; exome; clinical exome ... See more keywords
TAPES: A tool for assessment and prioritisation in exome studies
Sign Up to like & getrecommendations! Published in 2019 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1007453
Abstract: Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In an effort to identify pathogenic variants, reject benign variants and… read more here.
Keywords: exome studies; studies tapes; prioritisation exome; tool assessment ... See more keywords