Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
نویسندگان
چکیده
منابع مشابه
High-Throughput Microdissection for Next-Generation Sequencing
Precision medicine promises to enhance patient treatment through the use of emerging molecular technologies, including genomics, transcriptomics, and proteomics. However, current tools in surgical pathology lack the capability to efficiently isolate specific cell populations in complex tissues/tumors, which can confound molecular results. Expression microdissection (xMD) is an immuno-based cell...
متن کاملChallenges of using next generation sequencing in newborn screening.
Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of wh...
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Algorithms for Next-Generation High-Throughput Sequencing Technologies
متن کاملHigh-resolution, high-throughput HLA genotyping by next-generation sequencing.
The human leukocyte antigen (HLA) class I and class II loci are the most polymorphic genes in the human genome. Hematopoietic stem cell transplantation requires allele-level HLA typing at multiple loci to select the best matched unrelated donors for recipient patients. In current methods for HLA typing, both alleles of a heterozygote are amplified and typed or sequenced simultaneously, often ma...
متن کاملInfantile nephropathic cystinosis.
INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2019
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-019-0521-3