[HTML][HTML] Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT …
MC Lancaster, HH Chen, MB Shoemaker, MR Fleming… - medRxiv - ncbi.nlm.nih.gov
Objective: To develop a generalizable method of genotype inference based on distant
relatedness and to deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) …
relatedness and to deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) …
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome
MC Lancaster, HH Chen, MB Shoemaker, MR Fleming… - medRxiv, 2023 - medrxiv.org
Importance The diagnosis and study of rare genetic disease is often limited to referral
populations, leading to underdiagnosis and a biased assessment of penetrance and …
populations, leading to underdiagnosis and a biased assessment of penetrance and …
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome
MC Lancaster, HH Chen… - … : the preprint server …, 2023 - pubmed.ncbi.nlm.nih.gov
Importance The diagnosis and study of rare genetic disease is often limited to referral
populations, leading to underdiagnosis and a biased assessment of penetrance and …
populations, leading to underdiagnosis and a biased assessment of penetrance and …
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome.
MC Lancaster, HH Chen, MB Shoemaker… - Medrxiv: the Preprint …, 2023 - europepmc.org
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers
of a Mendelian disease variant: application to Long QT syndrome. - Abstract - Europe PMC …
of a Mendelian disease variant: application to Long QT syndrome. - Abstract - Europe PMC …
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
MC Lancaster, H Chen, MB Shoemaker, MR Fleming… - 2023 - europepmc.org
Objective: To develop a generalizable method of genotype inference based on distant
relatedness and to deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) …
relatedness and to deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) …