Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
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Big Data Analytics for Genomic MedicineFrom Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine.Advances in Therapeutic Approaches to Extend Healthspan: a perspective from the 2nd Scripps Symposium on the Biology of Aging.Big data opens a window onto wellness.Early Diagnosis of Sepsis: Is an Integrated Omics Approach the Way Forward?Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Genome instability: a conserved mechanism of ageing?A high-fidelity method for genomic sequencing of single somatic cells reveals a very high mutational burden.Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Penetrance and the Healthy Elderly.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Whole genome sequencing in psychiatric disorders: the WGSPD consortium.Human gene essentiality.Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration.Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders.Actionable secondary findings from whole-genome sequencing of 954 East Asians.Prioritizing diversity in human genomics research.Genetic basis of human congenital anomalies of the kidney and urinary tract.Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Peripheral Arterial Disease Genetics: Progress to Date and Challenges Ahead."Pheno"menal value for human health.Insights from population-based analyses of plasma lipids across the allele frequency spectrum.Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Electronic health records: the next wave of complex disease genetics.Rare variants in drug target genes contributing to complex diseases, phenome-wide.Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content.Big data from electronic health records for early and late translational cardiovascular research: challenges and potential.Pathogenicity of De Novo Rare Variants: Challenges and Opportunities.Collective feature selection to identify crucial epistatic variants.A large electronic-health-record-based genome-wide study of serum lipids.Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface.Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.Challenges and Solutions for Future Pharmacy Practice in the Era of Precision MedicineThe BabySeq project: implementing genomic sequencing in newbornsA Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
P2860
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P2860
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
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
Distribution and clinical impa ...... nces from the DiscovEHR study.
@en
Distribution and clinical impa ...... nces from the DiscovEHR study.
@nl
type
label
Distribution and clinical impa ...... nces from the DiscovEHR study.
@en
Distribution and clinical impa ...... nces from the DiscovEHR study.
@nl
prefLabel
Distribution and clinical impa ...... nces from the DiscovEHR study.
@en
Distribution and clinical impa ...... nces from the DiscovEHR study.
@nl
P2093
P2860
P50
P356
P1433
P1476
Distribution and clinical impa ...... nces from the DiscovEHR study.
@en
P2093
Alexander E Lopez
Alexander H Li
Andrew Murphy
Anthony Marcketta
Aris Baras
Christina A Austin-Tse
Christopher D Still
Colm O'Dushlaine
Cristopher V Van Hout
Daniel R Lavage
P2860
P356
10.1126/SCIENCE.AAF6814
P407
P50
P577
2016-12-01T00:00:00Z