Additional file 1 of OVAS: an open-source variant analysis suite with inheritance modelling

Supplementary Data. (DOCX 104 kb

Analysis of surface EEGs.

<p>(A-C) Original traces (top) and averaged frequency spectra (below) obtained in WT ZF, kcnj10a morphant ZF and WT ZF pretreated with pentylenetetrazol. (D) The averaged amplitudes (mean over 2–4 Hz) from (A-C) are compared. Note the significant epileptic activity in kcnj10a morphant (MO) and pentylenetetrazol-treated (PTZ) ZF. (E-G) Original traces (top) and averaged frequency spectra (below) obtained in kcnj10a morphant fish, and kcnj10a morphants treated with pentobarbitone (PB) or diazepam (DZP), respectively. (H) Averaged amplitudes (mean over 2–4 Hz) from (E-G) are compared. Note the significant suppression of epileptic activity by PB treatment, and lack of suppression by DZP.</p

Invasive recordings using a patch pipette inserted into the optic tectum of 120 hpf old ZF larvae.

<p>(A), 22 min recording of a buffer-injected control larva. Frequent spiking and also low level activity is present throughout the trace. (B), higher temporal and voltage resolution of the area marked in A. (C), kcnj10a morphant larva, showing genuine epileptic activity (marked with stars). Low-level activity is followed by a spontaneous large transient (arrowhead). Similar transients were seen while the fish showed brief total body contractions and could also be produced by a light tap on the recording setup (vertical arrow). The square marked “D” in C is shown in (D) at higher resolution.</p

Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m2 or more to first eGFR of less than 30 mL/min per 1·73 m2 (the therapeutic trial window).Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p Background Methods Findings Interpretation Funding</p