Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. - sprookjes - yvandenbroek - TriplyDB

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

http://www.wikidata.org/entity/Q41822367

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"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Medical implications of technical accuracy in genome sequencing Novel bioinformatic developments for exome sequencing Transposable element detection from whole genome sequence data Medical genomics: The intricate path from genetic variant identification to clinical interpretation Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics Genotyping by sequencing approaches to characterise crop genomes: choosing the right tool for the right application Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing The National Clinical Trials Network: Conducting Successful Clinical Trials of New Therapies for Rare Cancers Guanine holes are prominent targets for mutation in cancer and inherited disease Efficient Genome-Wide Sequencing and Low-Coverage Pedigree Analysis from Noninvasively Collected Samples Genomic variation among populations of threatened coral: Acropora cervicornis Crowdsourced direct-to-consumer genomic analysis of a family quartet BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity.Suitability of Different Mapping Algorithms for Genome-wide Polymorphism Scans with Pool-Seq Data An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.Comparing a few SNP calling algorithms using low-coverage sequencing data.Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Comparison of somatic mutation calling methods in amplicon and whole exome sequence data.Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.Performance comparison of SNP detection tools with illumina exome sequencing data--an assessment using both family pedigree information and sample-matched SNP array data Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.SCN8A mutation in a child presenting with seizures and developmental delays Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine Accurate de novo and transmitted indel detection in exome-capture data using microassembly.Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.Reducing INDEL calling errors in whole genome and exome sequencing data.Genomic data sharing for translational research and diagnostics Masking as an effective quality control method for next-generation sequencing data analysis.A simple data-adaptive probabilistic variant calling model.WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.SeqMule: automated pipeline for analysis of human exome/genome sequencing data 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.Real-world data in the molecular era-finding the reality in the real world.

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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

http://www.wikidata.org/entity/Q41822367

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Low concordance of multiple va ...... r exome and genome sequencing.

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Low concordance of multiple va ...... r exome and genome sequencing.

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Genome Medicine

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Low concordance of multiple va ...... or exome and genome sequencing

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Gholson J Lyon

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Guangqing Sun

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Hakon Hakonarson

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Jingchu Hu

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Kai Wang

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Lifeng Tian

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Paul Bodily

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Tao Jiang

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W Evan Johnson

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Wei Wang

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P2860

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

State of the art de novo assembly of human genomes from massively parallel sequencing data

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Variation in genome-wide mutation rates within and between human families

An integrated map of genetic variation from 1,092 human genomes

Exome sequencing identifies the cause of a mendelian disorder

Mapping copy number variation by population-scale genome sequencing

Targeted capture and massively parallel sequencing of 12 human exomes

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Genotype imputation with thousands of genomes

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