Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals …

Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered 1 . …

We present a dynamic empirical model of a firm's R&D decisions that is consistent with the
existence of sunk R&D costs, taking into account that these costs may differ between small …

Purpose With growing evidence that rare single gene disorders present in the neonatal period,
there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to …

Background Studies have shown that complex structural variants (cxSVs) contribute to human
genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant …

Babelomics has been running for more than one decade offering a user-friendly interface
for the functional analysis of gene expression and genomic data. Here we present its fifth …

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental
disorders often beginning in infancy or early childhood that are characterized by intractable …

We describe a novel computational method for genotyping repeats using sequence graphs.
This method addresses the long-standing need to accurately genotype medically important …