Genome-wide scans using archived neonatal dried blood spot samples
نویسندگان
چکیده
منابع مشابه
RNA sequencing of archived neonatal dried blood spots
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biosp...
متن کاملHigh Quality Genome-Wide Genotyping from Archived Dried Blood Spots without DNA Amplification
Spots of blood are routinely collected from newborn babies onto filter paper called Guthrie cards and used to screen for metabolic and genetic disorders. The archived dried blood spots are an important and precious resource for genomic research. Whole genome amplification of dried blood spot DNA has been used to provide DNA for genome-wide SNP genotyping. Here we describe a 96 well format proce...
متن کاملReuse of filter plates for elution of dried blood spot samples in neonatal assays.
Millipore MultiScreenTM filter plates are used for elution of dried blood spot samples in neonatal screening assays. A significant concern with the use of these plates is their cost. In this study we have evaluated the practice of reusing the filter plates in the Bio-Rad PKU and total galactose neonatal assays. All wells of the test plates used in the recovery study above were washed for a fift...
متن کاملHigh-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic diseases. DNA extracted from neonatal DBSs can be amplified to obtain micrograms of an otherwise limited resource, referred to as whole-genome amplified...
متن کاملA phenytoin assay using dried blood spot samples suitable for domiciliary therapeutic drug monitoring.
A commercially available substrate-labelled fluorescent immunoassay procedure has been modified to create a simple rapid method for the determination of capillary phenytoin concentration in dried filter paper blood spots of patients on phenytoin therapy. The specimens are collected and dispatched to the laboratory by the patient, thus domiciliary monitoring of phenytoin therapy can take place. ...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2009
ISSN: 1471-2164
DOI: 10.1186/1471-2164-10-297