Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.
about
Limitations of the human reference genome for personalized genomicsDisclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibilityMitigating false-positive associations in rare disease gene discoveryAnnotating the biomedical literature for the human variome.Management of incidental findings in clinical genomic sequencingLarge numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.Taxonomizing, sizing, and overcoming the incidentalome.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.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Management of Incidental Findings in Clinical Genomic Sequencing.
P2860
Q28727242-95CD6B70-69D3-4A9B-9789-AEFB2BDDC800Q35791516-06BF672A-A558-4783-8A59-6468BFD40D98Q36077083-A918119D-C0EA-4C24-931D-A049EEC08AD7Q36911878-6C645060-AB05-4107-8795-FF65F250FD1EQ37148891-C505A09D-F145-48CB-9933-B75CD6216A7DQ37205132-F47C9868-61E0-4739-A1BE-2D7D1A7FFE2BQ37290641-5D682BE8-5F99-48C2-B3AF-6E2E05398B1AQ38193764-67CB1853-8B6C-4B7E-A8E8-65789B208892Q38392363-081278FB-FE60-41E8-AA9C-67955BBAD246Q43590500-0F8443E6-72E7-4B31-BF45-9AFE19E96669Q47770082-98B83633-7B19-4896-A8E3-BD22A6360BFAQ50243039-5ECCA27C-A391-4439-94A6-FC8A04849D95
P2860
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Automated validation of geneti ...... to the same genomic locations.
@ast
Automated validation of geneti ...... to the same genomic locations.
@en
Automated validation of geneti ...... to the same genomic locations.
@nl
type
label
Automated validation of geneti ...... to the same genomic locations.
@ast
Automated validation of geneti ...... to the same genomic locations.
@en
Automated validation of geneti ...... to the same genomic locations.
@nl
prefLabel
Automated validation of geneti ...... to the same genomic locations.
@ast
Automated validation of geneti ...... to the same genomic locations.
@en
Automated validation of geneti ...... to the same genomic locations.
@nl
P2860
P356
P1433
P1476
Automated validation of geneti ...... to the same genomic locations.
@en
P2093
Christopher A Cassa
Mark Y Tong
P2860
P304
P356
10.1093/BIOINFORMATICS/BTR029
P407
P50
P577
2011-01-22T00:00:00Z