Expanding whole exome resequencing into non-human primates
نویسندگان
چکیده
منابع مشابه
Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney an...
متن کاملA Modified Method for Whole Exome Resequencing from Minimal Amounts of Starting DNA
Next generation DNA sequencing (NGS) technologies have revolutionized the pace at which whole genome and exome sequences can be generated. However, despite these advances, many of the methods for targeted resequencing, such as the generation of high-depth exome sequences, are somewhat limited by the relatively large amounts of starting DNA that are normally required. In the case of tumour analy...
متن کاملWhole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (...
متن کاملNon-human Primates
Introduction Less than 1⁄4 of one percent of all lab animals needed in the U.S. are non-human primates. Approximately 30 different species are studied by the research community.1 Many historic scientific breakthroughs, such as the discovery of the Rh factor and the development of a live polio virus vaccine were achieved through research with non-human primates. Today they are considered extreme...
متن کاملWhole 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...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2011
ISSN: 1465-6906
DOI: 10.1186/gb-2011-12-9-r87