Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …

Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …

In this paper we present a framework for backtesting all currently popular risk measurement
methods for quantifying market risk (including value-at-risk and expected shortfall) using the …

Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants, leaves …

Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in
the assessment of sequence variations in clinical genetics laboratories. One major limitation …

Background We investigated a measles outbreak among healthcare workers (HCWs) by
assessing laboratory characteristics, measles vaccine effectiveness, and serological correlates …

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic
associations are a growing challenge in the diagnosis and clinical management of Mendelian …

We propose a procedure to take model risk into account in the computation of capital reserves.
This addresses the need to make the allocation of capital reserves to positions in given …

An expanding range of genetic syndromes are characterized by genome‐wide disruptions
in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …

Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental
delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, …