about
CardioGxE, a catalog of gene-environment interactions for cardiometabolic traitsBig data and clinicians: a review on the state of the scienceOur genomes today: time to be clearUse of Graph Database for the Integration of Heterogeneous Biological Data.Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineMendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.Returning findings within longitudinal cohort studies: the 1958 birth cohort as an exemplar.The business of genomic testing: a survey of early adopters.Vitamin D receptor, an important transcription factor associated with aldosterone-producing adenoma.From days to hours: reporting clinically actionable variants from whole genome sequencing.Genomic sequencing and the impact of molecular diagnosis on patient care.Dominance of Deleterious Alleles Controls the Response to a Population BottleneckNovel pathogenic variants and genes for myopathies identified by whole exome sequencingThe emerging landscape of dynamic DNA methylation in early childhood.Estimating the selective effects of heterozygous protein-truncating variants from human exome data.Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.X-Linked Candidate Genes for a Ciliopathy-Like Disorder.A 2.5-year snapshot of Mendelian discovery.Molecular and genetic inflammation networks in major human diseases.Enhancing the incidental pipeline in genomic sequencing.The impact of germline mutations on targeted therapy.The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.Expect the unexpected: screening for secondary findings in clinical genomics research.The Benefits of Whole-Genome Sequencing Now and in the Future.Obstacles and opportunities for the future of genomic medicine.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.Whole-genome sequencing of quartet families with autism spectrum disorder.Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.GAVIN: Gene-Aware Variant INterpretation for medical sequencing.Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
P2860
Q21202157-47AB8277-43B1-4B16-A380-50F4DAEA44E4Q27012044-0DD098B2-AF55-491B-AD5F-75B236AAB0E0Q28679291-1F162386-6644-4959-95FA-63322F1D9EB5Q33559087-5EE3EDC8-419A-4A46-8813-619016524DB4Q33736038-D3138EDD-CD44-42B2-AC29-DDF562596561Q33778233-29429588-13B8-4A5F-B561-2AB906DC9A73Q34040535-6F95CAF2-33CC-4707-9480-78F293622007Q34675163-1F6AAE22-AB66-4E84-97FD-F2D4B5029674Q35077564-A176FD39-BF9A-4728-83EC-2D430A09131FQ35088090-92B1209A-1980-4AA4-87CA-C6264500FDC0Q35204406-44069513-8500-4809-8128-9DCDF2553C7DQ35758503-1043BC32-B2ED-40EB-B552-6B9585325A66Q35907744-912FC2B3-7663-4AE1-8C39-4BF585795838Q36240822-694FD451-4FF0-4FEF-9580-8BDF2FF0CC57Q36331726-773FEC9D-407A-48E4-A279-9852C840D281Q36341418-13529BDC-0625-4328-B85A-524272D11ACCQ36423179-D0F10729-22B1-4E57-A2BC-08341EB34B35Q36887563-993140F5-7969-4DB7-AE6F-6A0DA541D5F3Q37101217-F9FDDC14-9B4C-49D0-BF7A-89067E38F78BQ37114392-25300433-8510-4F90-80B4-C8FE99BC5BD5Q37687510-0E7810AF-5D7C-4489-89FA-90D0B1D0876AQ38151546-D4E55E9D-56EA-4D5E-8548-245524AFC7BCQ38193764-64A99C8A-E5E0-49D8-88BC-A61C28BAAC38Q38392363-35E8E838-209E-40F3-8A62-5C729F24E69FQ38495799-38C0AA63-E1F6-4CA8-8449-1E15A1779CB8Q38724584-BB35AC2C-7843-4FFD-A612-DAF7395E0281Q38731962-CB6BD9FE-1122-4A31-AE15-34510BDA566DQ38919559-6A60A7CE-CF19-4132-9612-D13F012ACEDAQ39174693-0F00616F-8DB7-43F4-B3F9-48A9FFE378D7Q39646857-48D59480-CB04-4780-A130-3521950A0196Q40580392-08270D45-EDDE-4E98-945F-1565632343DCQ41525456-E07C1042-9551-4CBB-9886-F1FBA4CC175EQ41654153-6041640B-21D3-40A8-8336-633BC43EC12FQ41835139-EA4C7F8D-6444-4A35-93B9-37C4B04880ADQ47120632-BAB1AE4B-2772-4C89-85B0-435E4C944250Q49912337-EB0F062C-3097-467A-8F22-3449C1F50379
P2860
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Clinical genomic database.
@en
type
label
Clinical genomic database.
@en
prefLabel
Clinical genomic database.
@en
P2093
P2860
P356
P1476
Clinical genomic database.
@en
P2093
Anh-Dao Nguyen
Benjamin D Solomon
Kelly A Bear
Tyra G Wolfsberg
P2860
P304
P356
10.1073/PNAS.1302575110
P407
P577
2013-05-21T00:00:00Z