Using population genetics to interrogate the monogenic nephrotic syndrome diagnosis in a case cohort
MG Sampson, CE Gillies, CC Robertson… - Journal of the …, 2016 - journals.lww.com
To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS)
to diagnose monogenic causes, reliably distinguishing NS-causing variants from the
background of rare, noncausal variants prevalent in all genomes is vital. To determine the
prevalence of monogenic NS in a North American case cohort while accounting for
background prevalence of genetic variation, we sequenced 21 implicated monogenic NS
genes in 312 participants from the Nephrotic Syndrome Study Network and 61 putative …
to diagnose monogenic causes, reliably distinguishing NS-causing variants from the
background of rare, noncausal variants prevalent in all genomes is vital. To determine the
prevalence of monogenic NS in a North American case cohort while accounting for
background prevalence of genetic variation, we sequenced 21 implicated monogenic NS
genes in 312 participants from the Nephrotic Syndrome Study Network and 61 putative …