Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.
about
Complex and multi-allelic copy number variation in human diseaseSimple and versatile molecular method of copy-number measurement using cloned competitorsEvidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 geneCombined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.The CNVrd2 package: measurement of copy number at complex loci using high-throughput sequencing data.Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skinDysregulation of human beta-defensin-2 protein in inflammatory bowel disease.Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.Identification of copy number variants defining genomic differences among major human groupsHuman β-Defensin 2 in Primary Sclerosing Cholangitis.Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis.Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing.Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disordersObesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.Accuracy in copy number calling by qPCR and PRT: a matter of DNA.Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremiaMeasurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.Recombination dynamics of a human Y-chromosomal palindrome: rapid GC-biased gene conversion, multi-kilobase conversion tracts, and rare inversions.A mechanistic basis for amplification differences between samples and between genome regionsAssociation studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.CNVrd, a read-depth algorithm for assigning copy-number at the FCGR locus: population-specific tagging of copy number variation at FCGR3BAmplification ratio control system for copy number variation genotyping.Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in sub-Saharan AfricaNarrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children.A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy.Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.Copy number polymorphism in plant genomesEvolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.Association of β-defensin copy number and psoriasis in three cohorts of European origin.A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees.
P2860
Q28083824-54BAC745-DE05-4484-ACBE-958EF235917FQ28534985-52AF72B6-925C-4020-B3A9-67729402BB1AQ28650364-C7B3D273-144E-468C-8F02-924D1332B6ADQ30427880-F59DBD1D-22CF-480F-8685-B1B2BDD0482AQ30479569-BFE527CC-D17B-4BF1-8EB5-6158E31F287FQ30843534-2618CED1-C55D-4758-A2DF-7EF608E867A4Q33303453-E624F429-FA31-4890-81AB-72F368EB3032Q33415491-82468606-28FA-4E39-B4B5-9F8B043E4015Q33484190-F4BB60B0-BB0F-47DA-9EF0-AF815D5D0524Q33507164-3E34FCAF-38ED-48A0-BCD7-3851ADE4BDD4Q33507516-3136C45C-A50D-47B6-91B6-089475D3B908Q33551867-682A3102-3943-4C50-B29E-7ED40793449DQ33559165-88A7E2DE-96AF-4D14-880F-FAA027841744Q33649261-9F471BB1-8EC1-440C-9ED4-A32DF9AEBE67Q33722090-D48B7826-F64E-4DEF-A077-19128C32F656Q33833931-8ACA89E2-0DAD-4D34-89C8-5E578D51F313Q33904773-FC7D16CE-7401-4A6D-9DF4-F2BDC2F9D750Q33996098-63DAE951-7188-435C-B488-99808010F456Q34043497-301BDDE0-D778-4679-8CDF-A99E61DD6219Q34103479-2B38DE28-ACF2-4289-8065-F1D3F94F21F1Q34182520-07B8FD8C-46AF-4DC3-92EA-594D75A2C062Q34341147-C73E142D-83B0-4F3F-A698-D63191DD2D75Q34363329-95244430-8DA5-47DC-9AED-666670F7C113Q34403997-798A64A7-62F7-4B81-914F-F7F84C660152Q34475611-6402A37B-0750-4FAC-9CF3-7457FCBEB1BAQ34688753-5576A786-D420-4532-A44F-4C2DFAFFC9E1Q34707100-0C8F9B76-4EDC-4516-8B95-0C9408DB22BCQ34865041-1CC0DE7A-3033-4165-94CB-B6F779B861D6Q35020478-B2115A62-2F6F-43C7-81A1-021F8274359BQ35046564-5A5F6CB1-EAD0-430A-B479-59BC3086500CQ35098020-926460E7-8885-416E-B8E6-1F32229FE9D8Q35175045-6EE1049B-FE14-4EFA-924A-1002E2B344B5Q35543785-8EA9E5CF-075F-47B4-BCF6-2275CA1FAFB8Q35549251-81F4A9AF-9B98-4DFB-B7D8-26A1ED432471Q35847854-2B454E64-BF04-48F0-A3F0-59B2E632F90BQ35891158-E10593BB-B03E-45B5-8C9A-06A443F605BBQ35981240-CBE624E3-AD77-42AB-B88F-A1E911AE60F6Q36017054-7AEEB3D7-21D6-4020-B5A1-8FE9520BFE80Q36247629-D11E4EA4-0D61-4771-926F-4FF1A03DB4E7Q36430823-FBC54884-9B56-4CC5-8252-93052B6800C0
P2860
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Accurate, high-throughput typi ...... ratios from dispersed repeats.
@en
type
label
Accurate, high-throughput typi ...... ratios from dispersed repeats.
@en
prefLabel
Accurate, high-throughput typi ...... ratios from dispersed repeats.
@en
P2860
P50
P356
P1476
Accurate, high-throughput typi ...... ratios from dispersed repeats
@en
P2093
Joost Schalkwijk
Raquel Palla
P2860
P356
10.1093/NAR/GKL1089
P577
2006-12-14T00:00:00Z