How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
about
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.Actionable Genes, Core Databases, and Locus-Specific Databases.Rare disease registries: a call to action.Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research.Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.Scuba: scalable kernel-based gene prioritization.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.VarAFT: a variant annotation and filtration system for human next generation sequencing data.
P2860
Q38905568-367C1057-C7C4-4576-82CD-6CE2C2A9F04CQ39418083-280A3413-1539-4659-9BCE-3E45E8E96583Q40048299-2D377A2A-2821-4275-ACCD-0256693D7863Q41673503-A6BB52A4-0FD8-4233-8106-FB0D1C25AA42Q47097077-5505867D-2DA5-4DD5-997B-4409C7AFBCC1Q47556397-87C43AF1-B813-4971-B997-1474DBBFBEEBQ47605252-88E1A801-189B-4EE1-A197-699DF92E3903Q47717402-30319D62-F165-48C5-9221-60887B0A6868Q55518676-3B994C28-98EE-4D7D-BD54-0DFC9BB69292
P2860
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
How to Identify Pathogenic Mut ...... in the Genome Sequencing Era.
@en
type
label
How to Identify Pathogenic Mut ...... in the Genome Sequencing Era.
@en
prefLabel
How to Identify Pathogenic Mut ...... in the Genome Sequencing Era.
@en
P2093
P2860
P356
P1433
P1476
How to Identify Pathogenic Mut ...... in the Genome Sequencing Era.
@en
P2093
Christophe Béroud
Jean-Pierre Desvignes
Matthew I Bellgard
P2860
P304
P356
10.1002/HUMU.23110
P577
2016-09-07T00:00:00Z