Accurate and comprehensive sequencing of personal genomes - Wikidata - wikimedia - TriplyDB

Accurate and comprehensive sequencing of personal genomes

Accurate and comprehensive sequencing of personal genomes

http://www.wikidata.org/entity/Q24604867

about

Overview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseases Fast gapped-read alignment with Bowtie 2 Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine Evolution and functional impact of rare coding variation from deep sequencing of human exomes Big Data Analytics for Genomic Medicine The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Reducing INDEL calling errors in whole genome and exome sequencing data.Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Integrative methods for analyzing big data in precision medicine.A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.Performance comparison of whole-genome sequencing platforms.The role of replicates for error mitigation in next-generation sequencing.Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods Sequencing studies in human genetics: design and interpretation.A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data.A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare Whole-genome sequencing identifies genetic variances in culture-expanded human mesenchymal stem cells Coverage theories for metagenomic DNA sequencing based on a generalization of Stevens' theorem Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.Sequencing depth and coverage: key considerations in genomic analyses.Confidence-based somatic mutation evaluation and prioritization Micro-scale genomic DNA copy number aberrations as another means of mutagenesis in breast cancer.Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing.Revising a personal genome by comparing and combining data from two different sequencing platforms Séance: reference-based phylogenetic analysis for 18S rRNA studies Quantifying single nucleotide variant detection sensitivity in exome sequencing Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Exploring the transcriptome space of a recombinant BHK cell line through next generation sequencing.Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.(Post-)genomics approaches in fungal research.Variant detection sensitivity and biases in whole genome and exome sequencing.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Factor-induced Reprogramming and Zinc Finger Nuclease-aided Gene Targeting Cause Different Genome Instability in β-Thalassemia Induced Pluripotent Stem Cells (iPSCs).

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Accurate and comprehensive sequencing of personal genomes

http://www.wikidata.org/entity/Q24604867

description

2011 nî lūn-bûn

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2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Accurate and comprehensive sequencing of personal genomes

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Accurate and comprehensive sequencing of personal genomes

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Accurate and comprehensive sequencing of personal genomes

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type

label

Accurate and comprehensive sequencing of personal genomes

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Accurate and comprehensive sequencing of personal genomes

@en

Accurate and comprehensive sequencing of personal genomes

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prefLabel

Accurate and comprehensive sequencing of personal genomes

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Accurate and comprehensive sequencing of personal genomes

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Accurate and comprehensive sequencing of personal genomes

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Genome Research

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Accurate and comprehensive sequencing of personal genomes

@en

P2093

Elliott H Margulies

http://www.w3.org/2001/XMLSchema#string

Hatice Ozel Abaan

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Karin V Fuentes Fajardo

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Stephen C J Parker

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Subramanian S Ajay

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P2860

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

The diploid genome sequence of an Asian individual

Finishing the euchromatic sequence of the human genome

Quality assessment of the human genome sequence

A map of human genome variation from population-scale sequencing

A comprehensive catalogue of somatic mutations from a human cancer genome

Accurate whole human genome sequencing using reversible terminator chemistry

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

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1498-505

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10.1101/GR.123638.111

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21771779

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3166834

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