Limitations of the human reference genome for personalized genomics
about
Whole-genome sequencing in an autism multiplex familyThe struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken.Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblyVCGDB: a dynamic genome database of the Chinese population.Structured decision-making: using personalized medicine to improve the value of cancer care.FISHIS: fluorescence in situ hybridization in suspension and chromosome flow sorting made easyLow frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data.Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.The genetics of microdeletion and microduplication syndromes: an update.Precision Metagenomics: Rapid Metagenomic Analyses for Infectious Disease Diagnostics and Public Health SurveillanceEvaluating rare variants in complex disorders using next-generation sequencing.Incorporating the human gene annotations in different databases significantly improved transcriptomic and genetic analysesAn ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.GenePANDA-a novel network-based gene prioritizing tool for complex diseasesInternational Standards for Genomes, Transcriptomes, and Metagenomes.Assessment of REPLI-g Multiple Displacement Whole Genome Amplification (WGA) Techniques for Metagenomic Applications.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.The dichotomy between disease phenotype databases and the implications for understanding complex diseases involving the major histocompatibility complex.Highly Variable Genomic Landscape of Endogenous Retroviruses in the C57BL/6J Inbred Strain, Depending on Individual Mouse, Gender, Organ Type, and Organ Location.Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.Reference-free prediction of rearrangement breakpoint reads.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Comparing genetic variants detected in the 1000 genomes project with SNPs determined by the International HapMap Consortium.A Fast SCCA Algorithm for Big Data Analysis in Brain Imaging Genetics
P2860
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P2860
Limitations of the human reference genome for personalized genomics
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Limitations of the human reference genome for personalized genomics
@ast
Limitations of the human reference genome for personalized genomics
@en
Limitations of the human reference genome for personalized genomics
@nl
type
label
Limitations of the human reference genome for personalized genomics
@ast
Limitations of the human reference genome for personalized genomics
@en
Limitations of the human reference genome for personalized genomics
@nl
prefLabel
Limitations of the human reference genome for personalized genomics
@ast
Limitations of the human reference genome for personalized genomics
@en
Limitations of the human reference genome for personalized genomics
@nl
P2093
P2860
P1433
P1476
Limitations of the human reference genome for personalized genomics
@en
P2093
Christopher E Mason
Jeffrey A Rosenfeld
Todd M Smith
P2860
P304
P356
10.1371/JOURNAL.PONE.0040294
P407
P577
2012-01-01T00:00:00Z