TY - JOUR
T1 - Whole genome sequencing in clinical practice
AU - Bagger, Frederik Otzen
AU - Borgwardt, Line
AU - Jespersen, Andreas Sand
AU - Hansen, Anna Reimer
AU - Bertelsen, Birgitte
AU - Kodama, Miyako
AU - Nielsen, Finn Cilius
N1 - © 2024. The Author(s).
PY - 2024/1/29
Y1 - 2024/1/29
N2 - Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for sequential genetic testing. Whereas, the laboratory requirements are similar to conventional molecular genetics, the amount of data is large and WGS requires a comprehensive computational and storage infrastructure in order to facilitate data processing within a clinically relevant timeframe. The output of a single WGS analyses is roughly 5 MIO variants and data interpretation involves specialized staff collaborating with the clinical specialists in order to provide standard of care reports. Although the field is continuously refining the standards for variant classification, there are still unresolved issues associated with the clinical application. The review provides an overview of WGS in clinical practice - describing the technology and current applications as well as challenges connected with data processing, interpretation and clinical reporting.
AB - Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for sequential genetic testing. Whereas, the laboratory requirements are similar to conventional molecular genetics, the amount of data is large and WGS requires a comprehensive computational and storage infrastructure in order to facilitate data processing within a clinically relevant timeframe. The output of a single WGS analyses is roughly 5 MIO variants and data interpretation involves specialized staff collaborating with the clinical specialists in order to provide standard of care reports. Although the field is continuously refining the standards for variant classification, there are still unresolved issues associated with the clinical application. The review provides an overview of WGS in clinical practice - describing the technology and current applications as well as challenges connected with data processing, interpretation and clinical reporting.
KW - Clinical bioinformatics infrastructure
KW - Functional variant testing
KW - Variant filtering and interpretation
KW - Whole genome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85183429407&partnerID=8YFLogxK
U2 - 10.1186/s12920-024-01795-w
DO - 10.1186/s12920-024-01795-w
M3 - Review
C2 - 38287327
SN - 1755-8794
VL - 17
JO - BMC Medical Genomics
JF - BMC Medical Genomics
IS - 1
M1 - 39
ER -