Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-00713-9
Abstract: Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. We analyzed 1007 consecutive index cases for… read more here.
Keywords: sequencing diagnostic; index cases; diagnostic setting; application ... See more keywords
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis
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DOI: 10.1111/hae.13638
Abstract: Bleeding assessment tools and laboratory phenotyping often remain inconclusive in patients with a haemorrhagic diathesis. read more here.
Keywords: workup patients; exome sequencing; sequencing diagnostic; diathesis ... See more keywords
‘Next Generation Sequencing’ as a diagnostic tool in paediatrics
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2020-320251
Abstract: Two recent studies in Asia illustrate the potential of next generation sequencing (NGS) and the value of large-scale studies in Asian cohorts to represent variation in the reference genome. The UK itself has a diverse… read more here.
Keywords: sequencing diagnostic; diagnostic tool; generation; diagnostic yield ... See more keywords