Clinical Genomics: When Whole Genome Sequencing Is like a Whole-body CT Scan
نویسندگان
چکیده
منابع مشابه
Whole-exome/genome sequencing and genomics.
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism. The human genome, which is contained in the 23 pairs of nuclear chromosomes and in the mitochondrial DN...
متن کاملWhole exome and whole genome sequencing.
PURPOSE OF REVIEW The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care. RECENT FINDINGS Advances in instrumentation have dramatically reduced the cost of DNA sequencing. An individual's entire genome ...
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Explosive advances in next-generation sequencer (NGS) and computational analyses have enabled exploration of somatic protein-altered mutations in most cancer types, with coding mutation data intensively accumulated. However, there is limited information on somatic mutations in non-coding regions, including introns, regulatory elements and non-coding RNA. Structural variants and pathogen in canc...
متن کاملWhen the whole-body scan shows no abnormality.
In September, 2006, a 66-year-old man was admitted to our hospital with a 6-week history of nausea, dysphagia to solids, and abdominal discomfort after eating. His appetite was much reduced, and he reported that he felt sated after eating little food; he had lost 10 kg in weight, and was constantly tired. His past medical history included hypertension, dyslipidaemia, and coronary artery disease...
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: 2014
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2014.230276