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...
متن کاملWhole Exome Sequencing
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متن کاملComparing whole genome sequencing and exome sequencing
Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
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 ...
متن کاملWhole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325, respectively, for WES, and 84,968 and 12,702, respectively, for WGS. For bo...
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ژورنال
عنوان ژورنال: Obstetrics and Gynecology Clinics of North America
سال: 2018
ISSN: 0889-8545
DOI: 10.1016/j.ogc.2017.10.003