Rare disease + lots of sequencing = mechanism?
نویسندگان
چکیده
منابع مشابه
Massively parallel sequencing and rare disease.
Massively parallel sequencing has enabled the rapid, systematic identification of variants on a large scale. This has, in turn, accelerated the pace of gene discovery and disease diagnosis on a molecular level and has the potential to revolutionize methods particularly for the analysis of Mendelian disease. Using massively parallel sequencing has enabled investigators to interrogate variants bo...
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A 16 year old women with Tangier disease in palatine tonsils is reported. She has recurrent sore throat. In physical examination the palatine tonsils are hypertrophied and has very yellowish points. The facial skin is yellowish the skin of another areas of body is normal. After tonsillectomy the pathologist report Tangier disease in palatine tonsils.
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MOTIVATION Next-generation targeted resequencing of genome-wide association study (GWAS)-associated genomic regions is a common approach for follow-up of indirect association of common alleles. However, it is prohibitively expensive to sequence all the samples from a well-powered GWAS study with sufficient depth of coverage to accurately call rare genotypes. As a result, many studies may use ne...
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ژورنال
عنوان ژورنال: Blood
سال: 2021
ISSN: ['1528-0020', '0006-4971']
DOI: https://doi.org/10.1182/blood.2020010384