Accuracy of short tandem repeats genotyping tools in whole exome sequencing data
نویسندگان
چکیده
منابع مشابه
Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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To date we have little knowledge of how accurate next-generation sequencing (NGS) technologies are in sequencing repetitive sequences beyond known limitations to accurately sequence homopolymers. Only a handful of previous reports have evaluated the potential of NGS for sequencing short tandem repeats (microsatellites) and no empirical study has compared and evaluated the performance of more th...
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OBJECTIVE Establish a typing system for Mycobacterium leprae based on polymorphic DNA structures known as short tandem repeats (STR). DESIGN Assess 16 polymorphic STR for sensitivity, specificity and reproducibility in standard assays using reference strains of M. leprae. RESULTS Primers for 16 STR loci were selected based on PCR product size and for their ability to sequence each STR locus...
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Background: Over the last decade, we have witnessed an incredible growth in the field of exome and genome sequencing. This information can be used to predict phenotypes for a number of traits of medical relevance. Here, we have focused on the identification of blood cell traits, developing BOOGIE, a tool recognizing relevant mutations through genome analysis and interpreting them in several blo...
متن کاملWhole exome sequencing to identify genetic causes of short stature.
BACKGROUND/AIMS Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. METHODS We recruited 14 children with severe short stature of unknown etiology. We conducted whole ex...
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ژورنال
عنوان ژورنال: F1000Research
سال: 2020
ISSN: 2046-1402
DOI: 10.12688/f1000research.22639.1