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Exome sequencing identifies ZNF644 mutations in high myopiaExome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studyA form of the metabolic syndrome associated with mutations in DYRK1BTargeted enrichment of genomic DNA regions for next-generation sequencingCracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesGenetics of hearing loss in Africans: use of next generation sequencing is the best way forwardComprehensive genomic studies: emerging regulatory, strategic, and quality assurance challenges for biorepositoriesIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressExome sequencing: a transformative technologyMutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesPacific biosciences sequencing technology for genotyping and variation discovery in human dataMassively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sortingHybrid capture and next-generation sequencing identify viral integration sites from formalin-fixed, paraffin-embedded tissue.Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weaknessWEP: a high-performance analysis pipeline for whole-exome data.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Exome capture from saliva produces high quality genomic and metagenomic dataAccurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencingGenetic testing in steroid-resistant nephrotic syndrome: when and how?Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African AmericansEXCAVATOR: detecting copy number variants from whole-exome sequencing dataA Path to Implement Precision Child Health Cardiovascular MedicineKernel-machine testing coupled with a rank-truncation method for genetic pathway analysis.Detecting association of rare and common variants based on cross-validation prediction error.Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing.A rare variant association test based on combinations of single-variant tests.Improved variant calling accuracy by merging replicates in whole-exome sequencing studiesVarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerDetection of rare variant effects in association studies: extreme values, iterative regression, and a hybrid approach.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.A beginners guide to SNP calling from high-throughput DNA-sequencing data.Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.CoNVEX: copy number variation estimation in exome sequencing data using HMMThe unintended implications of blurring the line between research and clinical care in a genomic age.Joint genotype inference with germline and somatic mutations.
P2860
Q21092428-38758F6C-7DCB-471C-9763-6F528AAFF19FQ21132010-AC2BD57A-8909-4039-9EF1-0BBBD110A483Q24297819-134F5081-18DE-4DB7-BE4C-7750AB718665Q24618696-849050C4-CDCC-4708-B43F-3981A8EDAD75Q26776038-9A1FFD53-3AD5-4AAC-BBE2-E4BB34FD00F0Q26799628-CAAA8934-A3E8-4213-993E-ADFB4AF4038BQ27009141-D4ABC938-FA69-4311-B95B-E50A17051A03Q28394808-8311CFD2-1D66-408B-99B9-909E7D83CE91Q28731354-DE12298E-E9AD-45F5-9F70-9E1B1E6F4D6CQ29147550-0B039DE9-F5ED-46F2-82B6-A37D3E18FE58Q29999309-6D767D46-5755-4F4D-8F42-354B63EB003AQ30455191-5E365FAC-C4B0-448F-8122-A6E23102EAB6Q30468102-2D88AE43-D4F0-4053-8A33-918FCB6D3B0AQ30572046-DBE608DD-32B0-47BB-A1F6-01A41A747F3FQ30652513-B104FA15-9BF0-4C32-8D80-5A7F7E5DEDF9Q30657467-7E58C157-3DD7-48F0-8FF2-7CCE7A0649BDQ30795243-1DBB0E98-7EFD-479F-BD93-1580F5ECAA67Q31096224-18AA6535-EB4A-4280-BCA4-7CF613446AA4Q33361808-897A6B92-96CF-4998-B514-FFF0DB09EF95Q33395814-D190B2C6-2925-4229-B0FF-0E313096FA1FQ33608787-81C8F866-9447-4A54-A6F6-E70081BBB5A4Q33623998-8A934166-A104-4CB6-A9A5-A1A9F6F79C6FQ33742574-14E34147-9160-45BF-8660-11F4A96591A2Q33747402-875F89C3-F20A-4111-A5E8-38AF2B2F17B5Q33814014-B434CD43-E026-41EB-82A2-6C5E5B477C48Q33887770-D2761A57-74EC-4D8F-B90B-D9C2FA1EFF59Q33889912-E238F55D-53F2-442B-8A41-59976473B8C3Q34021946-4A209255-923C-4F3D-A482-B67507FFED8BQ34064592-E2084CA0-A1A9-4F1F-822D-A1C206387979Q34115271-5110723F-D06A-4EBF-A863-4943E38047F5Q34176084-07D158F5-237E-4DB5-B0DC-10F5141AB0E9Q34181261-5D656195-2826-4EA3-A41B-8F928A65A82AQ34201078-4FD48DDE-BD49-4A61-9F78-CC5D5AC50718Q34372039-8A694B68-CC9E-4162-9E51-DFA3CAD1942FQ34377360-45DCA9D3-BE91-4625-89AB-48B93EFFBD86Q34471832-B63BE0CB-DE04-4453-ABAD-0CED6B74749BQ34505663-5B4B4A5B-A9CB-44A6-A67B-6F8E0E497A3AQ34569598-73F84ADF-E419-4C2A-926D-5398D09C1D13Q34675532-2CD54747-DBAF-47CE-8482-28B4E3F465BFQ34756290-FAF9029E-B210-4551-973D-7BF51FA5D818
P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Exome sequencing: the sweet spot before whole genomes.
@ast
Exome sequencing: the sweet spot before whole genomes.
@en
Exome sequencing: the sweet spot before whole genomes.
@nl
type
label
Exome sequencing: the sweet spot before whole genomes.
@ast
Exome sequencing: the sweet spot before whole genomes.
@en
Exome sequencing: the sweet spot before whole genomes.
@nl
prefLabel
Exome sequencing: the sweet spot before whole genomes.
@ast
Exome sequencing: the sweet spot before whole genomes.
@en
Exome sequencing: the sweet spot before whole genomes.
@nl
P2860
P356
P1476
Exome sequencing: the sweet spot before whole genomes.
@en
P2093
Jamie K Teer
P275
P2860
P304
P356
10.1093/HMG/DDQ333
P577
2010-08-12T00:00:00Z
2010-10-15T00:00:00Z