Diagnosing rare diseases after the exome
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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Recent advances in high-throughput sequencing technologies have made exome sequencing to be an outstanding tool for finding disease associated mutations at a relatively low cost. However, it is a non-trivial task to transform the vast amount of sequence data into meaningful variants to improve disease understanding. Several challenges arise when dealing with this approach, being critical checkp...
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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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Genetic Analysis Workshop 17 (GAW17) provided a platform for evaluating existing statistical genetic methods and for developing novel methods to analyze rare variants that modulate complex traits. In this article, we present an overview of the 1000 Genomes Project exome data and simulated phenotype data that were distributed to GAW17 participants for analyses, the different issues addressed by ...
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ژورنال
عنوان ژورنال: Molecular Case Studies
سال: 2018
ISSN: 2373-2865,2373-2873
DOI: 10.1101/mcs.a003392