Clinical Diagnosis through Whole-Genome Sequencing
نویسندگان
چکیده
منابع مشابه
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, n...
متن کاملWhole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
OBJECTIVE To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). METHODS Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of co...
متن کاملWhole-Genome Bisulfite Sequencing
Next-generation sequencing technology has enabled genome-wide analysis of 5mC nucleotides at single-nucleotide resolution. Previous methods for whole-genome bisulfite sequencing (WGBS) yielded reduced genomic representation due to required DNA shearing, ligation of methylated sequencing adapters, and bisulfite conversion of unmethylated cytidine residues prior to sequencing. One disadvantage of...
متن کاملWhole-genome re-sequencing.
DNA sequencing can be used to gain important information on genes, genetic variation and gene function for biological and medical studies. The growing collection of publicly available reference genome sequences will underpin a new era of whole genome re-sequencing, but sequencing costs need to fall and throughput needs to rise by several orders of magnitude. Novel technologies are being develop...
متن کاملWhole-Genome Bisulfite Sequencing
Next-generation sequencing technology has enabled genome-wide analysis of 5mC nucleotides at single-nucleotide resolution. Previous methods for whole-genome bisulfite sequencing (WGBS) yielded reduced genomic representation due to required DNA shearing, ligation of methylated sequencing adapters, and bisulfite conversion of unmethylated cytidine residues prior to sequencing. One disadvantage of...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2019
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem.2019.310128