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 …

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 …

Spontaneously arising mouse mutations have served as the foundation for understanding
gene function for more than 100 years. We have used exome sequencing in an effort to …

Unlocking Mendelian disease using exome sequencing | Genome Biology Skip to main
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Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

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 …

Recent developments in high‐throughput sequence capture methods and next‐generation
sequencing technologies have now made exome sequencing a viable approach to …

Next generation sequencing can be used to search for Mendelian disease genes in an
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …

Many exome sequencing studies of Mendelian disorders fail to optimally exploit family
information. Classical genetic linkage analysis is an effective method for eliminating a large …

The development of next-generation sequencing technologies has allowed for the
identification of several new genes and genetic factors in human genetics. Common results …