About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …

Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …

Rare diseases comprise a diverse group of conditions, most of which involve genetic
causes. We describe the variable spectrum of findings and clinical impacts of exome …

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in
rare and undiagnosed diseases | Genetics in Medicine Skip to main content Thank you for …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Purpose The increased adoption of genomic strategies in the clinic makes it imperative for
diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome …

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure
and functional genetic variants. Combining exome sequencing with linkage studies is one of …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Background Dramatic improvements in DNA-sequencing technologies and computational
analyses have led to wide use of whole exome sequencing (WES) to identify the genetic …

Unlocking Mendelian disease using exome sequencing | Genome Biology Skip to main
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