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NIH to Provide Access to Exome Sequencing for Mendelian Diseases

NEW YORK (GenomeWeb News) – The National Heart, Lung, and Blood Institute will provide researchers studying certain Mendelian disorders access to exome sequencing capabilities under a new four-year grant program.

The program will provide sequencing capacity of the Mendelian Disorders Genome Centers, funded by the National Human Genome Research Institute, for researchers who already have collected samples and are seeking genetic variants involved in monogenic diseases of the heart, lungs, and blood, as well as sleep disorders.

According to NHLBI, around 25 million Americans suffer from rare diseases, a vast majority of which are genetically determined and likely caused by single gene mutations. These Resource Access Awards (X01) will provide sequencing capabilities to that show promise in its ability to identify causal genetic variants for Mendelian diseases with exome sequencing.

Besides studying obvious Mendelian traits, the awards also provide an opportunity to discover de novo mutations and to identify causes of some rare diseases that are difficult to diagnose.

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