Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
نویسندگان
چکیده
منابع مشابه
Exome Sequencing Deciphers Rare Diseases
Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
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BACKGROUND The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inheritance patterns, such as uniparental disomy (UPD). UPD is the inheritance of two copies of a chr...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2014
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2014.04.005