Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

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 …

Purpose We investigated the value of transcriptome sequencing (RNAseq) in ascertaining
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …

Background With the expanded availability of next generation sequencing (NGS)-based
clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh …

Understanding clinical genetic test results in the era of next-generation sequencing has
become increasingly complex, necessitating clear and thorough guidelines for sequence …

BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …

Over the past decade, next-generation sequencing (NGS) has led to an exponential
increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

Gene-panel and whole-exome analyses are now standard methodologies for mutation
detection in Mendelian disease. However, the diagnostic yield achieved is at best 50 …

Background To understand the contribution of Mendelian mutations to the burden of
undiagnosed diseases that are suspected to be genetic in origin, we developed a next …