Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Our understanding of inherited retinal disease has benefited immensely from molecular
genetic analysis over the past several decades. New technologies that allow for increasingly …

Abstract Purpose Neurodevelopmental disorders (NDDs) often result from rare genetic
variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically …

Background Clinical exome sequencing typically achieves diagnostic yields of 30%–57.5%
in individuals with monogenic rare diseases. Undiagnosed diseases programmes …

De novo heterozygous variants in the brain‐specific transcription factor Neuronal
Differentiation Factor 2 (NEUROD2) have been recently associated with early‐onset …

Current sequencing-based methods for profiling microbial communities rely on marker gene
(eg, 16S rRNA) or metagenome shotgun sequencing (mWGS) analysis. We present an …

Ataxia involves incoordination of balance, gait, extremity movements, eye movements, and
dysarthria. Hereditary ataxia has a heterogeneous genetic background, with hundreds of …

Transcriptomics is the science of transcript analysis and comprises a list of strings called
reads while Transcriptome is the full range of messenger RNA (mRNA) molecules …

Current sequencing-based methods for profiling microbial communities rely on marker gene
(eg, 16S rRNA) or metagenome shotgun sequencing (mWGS) analysis. We present an …