A comparative analysis of exome capture - Test2 - elhamkhani - TriplyDB

A comparative analysis of exome capture

A comparative analysis of exome capture

http://www.wikidata.org/entity/Q21184017

about

Medical implications of technical accuracy in genome sequencing Current status and new features of the Consensus Coding Sequence database Tracking and coordinating an international curation effort for the CCDS Project Novel bioinformatic developments for exome sequencing Exome sequencing in suspected monogenic dyslipidemias.Exome capture from saliva produces high quality genomic and metagenomic data PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Validation and assessment of variant calling pipelines for next-generation sequencing.Improved variant calling accuracy by merging replicates in whole-exome sequencing studies Assessing the enrichment performance in targeted resequencing experiments.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.A survey of tools for variant analysis of next-generation genome sequencing data.High throughput exome coverage of clinically relevant cardiac genes.Quantifying single nucleotide variant detection sensitivity in exome sequencing Comparison of custom capture for targeted next-generation DNA sequencing Performance comparison of four exome capture systems for deep sequencing.Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions.Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing Performance comparison of four commercial human whole-exome capture platforms Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling New insights into the performance of human whole-exome capture platforms.Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.Assessment of the latest NGS enrichment capture methods in clinical context.High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.History cleans up messes: The impact of time in driving divergence and introgression in a tropical suture zone.Next-generation sequencing in hematologic malignancies: what will be the dividends?Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles TrAp: a tree approach for fingerprinting subclonal tumor composition.Existing and emerging technologies for tumor genomic profiling Assessment of whole genome amplification for sequence capture and massively parallel sequencing.Resistance gene enrichment sequencing (RenSeq) enables reannotation of the NB-LRR gene family from sequenced plant genomes and rapid mapping of resistance loci in segregating populations.Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.Exome versus transcriptome sequencing in identifying coding region variants.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Technical and implementation issues in using next-generation sequencing of cancers in clinical practice.Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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A comparative analysis of exome capture

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Ian Grabill

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Ivan Iossifov

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Jennifer S Parla

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Melissa Kramer

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Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

A map of human genome variation from population-scale sequencing

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Fast and accurate short read alignment with Burrows-Wheeler transform

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

The Sequence Alignment/Map format and SAMtools

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