Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Lisa A LansdonMaxime Cadieux-DionJohn C HerrigesJeffrey JohnstonByunggil YooJoseph T AlaimoIsabelle ThiffaultNeil MillerAna S A CohenElena A RepnikovaLei ZhangMidhat S FarooqiEmily G FarrowCarol J SaundersPublished in: Clinical chemistry (2022)
There were a small number of clinically significant changes between the 2 genome builds. GRCh38 provided improved detection of nucleotide changes due to the resolution of discrepancies present in GRCh37. Implementation of GRCh38 results in more accurate and consistent reporting.
Keyphrases
- endothelial cells
- genome wide
- primary care
- healthcare
- induced pluripotent stem cells
- copy number
- high resolution
- quality improvement
- adverse drug
- loop mediated isothermal amplification
- pluripotent stem cells
- label free
- real time pcr
- gene expression
- circulating tumor
- electronic health record
- circulating tumor cells
- drug induced