Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Congenital anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls. Diagnostic and candidate diagnostic variants are detected in 14.

Views of judges and potential jurors on responsibility for behavior in tort litigation in the genomic era.

The potential uses-and misuses-of psychiatric genetic evidence in litigation concerning defendants' responsibility for behavior has, to date, mostly focused on criminal justice. Yet the introduction of psychiatric genetic evidence in tort litigation raises old and new legal and social questions that merit consideration. We conducted a vignette-based survey of state trial court judges (n = 465) and potential jurors (n = 2131) to assess how psychiatric genetic evidence may affect views on civil responsibility and related decisions.

Assisting the analysis of insertions and deletions using regional allele frequencies.

Accurate estimation of population allele frequency (AF) is crucial for gene discovery and genetic diagnostics. However, determining AF for frameshift-inducing small insertions and deletions (indels) faces challenges due to discrepancies in mapping and variant calling methods. Here, we propose an innovative approach to assess indel AF.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L.

Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.

Significance Statement: APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence of modifiers of the APOL1 effect. We show that a diverse population of CKD patients with high-risk APOL1 genotypes have an increased lifetime risk of kidney failure and higher eGFR decline rates, with a graded risk among specific high-risk genotypes. CKD patients with high-risk APOL1 genotypes have a lower diagnostic yield for monogenic kidney disease.