[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, 2023 - 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) …
Voltage-gated potassium channels (Kv) in GtoPdb v.2023.1
The 6TM family of K channels comprises the voltage-gated KV subfamilies, the EAG
subfamily (which includes hERG channels), the Ca 2+-activated Slo subfamily (actually with …
subfamily (which includes hERG channels), the Ca 2+-activated Slo subfamily (actually with …
[HTML][HTML] Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
MC Lancaster, HH Chen, MB Shoemaker… - Research …, 2023 - ncbi.nlm.nih.gov
Rare genetic diseases are typically studied in referral populations, resulting in
underdiagnosis and biased assessment of penetrance and phenotype. To address this, we …
underdiagnosis and biased assessment of penetrance and phenotype. To address this, we …