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

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

High-throughput sequencing has ushered in a diversity of approaches for identifying genetic
variants and understanding genome structure and function. When applied to individuals with …

Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Unlocking Mendelian disease using exome sequencing | Genome Biology Skip to main
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The recent advent of next-generation sequencing technologies has dramatically changed
the nature of biomedical research. Human genetics is no exception-it has never been easier …

We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …

While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …