Extensive sequencing of seven human genomes to characterize benchmark reference materials.
about
Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision MedicineDeep sequencing of 10,000 human genomesA hybrid approach for de novo human genome sequence assembly and phasing.Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomesntCard: a streaming algorithm for cardinality estimation in genomics data.DangerTrack: A scoring system to detect difficult-to-assess regionsABySS 2.0: resource-efficient assembly of large genomes using a Bloom filter.Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblyA reference human genome dataset of the BGISEQ-500 sequencer.Scaffolding of long read assemblies using long range contact information.Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencingCLOVE: classification of genomic fusions into structural variation eventsDetecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant callerOpportunities and challenges of whole-genome and -exome sequencing.Population and clinical genetics of human transposable elements in the (post) genomic era.Precision Metagenomics: Rapid Metagenomic Analyses for Infectious Disease Diagnostics and Public Health SurveillanceVCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS datagEVAL - a web-based browser for evaluating genome assembliesInternational Standards for Genomes, Transcriptomes, and Metagenomes.TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.The role of human host genetics in tuberculosis resistance.Identifying and mitigating batch effects in whole genome sequencing data.Reference standards for next-generation sequencing.Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis.KMC 3: counting and manipulating k -mer statistics.Quality control materials for pharmacogenomic testing in the clinic.HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies.Critical points for an accurate human genome analysis.Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.Biocompute Objects-A Step towards Evaluation and Validation of Biomedical Scientific Computations.XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.PennCNV in whole-genome sequencing data.Improved assembly of noisy long reads by k-mer validationARCS: scaffolding genome drafts with linked reads.Challenges and recommendations for epigenomics in precision health.Lightning-fast genome variant detection with GROM.VariantTools: an extensible framework for developing and testing variant callers.SOAPnuke: A MapReduce Acceleration supported Software for integrated Quality Control and Preprocessing of High-Throughput Sequencing Data.Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.
P2860
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P2860
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
description
2016 nî lūn-bûn
@nan
2016 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունիսին հրատարակված գիտական հոդված
@hy
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
name
Extensive sequencing of seven human genomes to characterize benchmark reference materials
@nl
Extensive sequencing of seven ...... benchmark reference materials.
@ast
Extensive sequencing of seven ...... benchmark reference materials.
@en
type
label
Extensive sequencing of seven human genomes to characterize benchmark reference materials
@nl
Extensive sequencing of seven ...... benchmark reference materials.
@ast
Extensive sequencing of seven ...... benchmark reference materials.
@en
prefLabel
Extensive sequencing of seven human genomes to characterize benchmark reference materials
@nl
Extensive sequencing of seven ...... benchmark reference materials.
@ast
Extensive sequencing of seven ...... benchmark reference materials.
@en
P2093
P2860
P50
P3181
P356
P1433
P1476
Extensive sequencing of seven ...... benchmark reference materials.
@en
P2093
Alex Hastie
Alexa B R McIntyre
Alexander W Zaranek
Ali Bashir
Ali Moshrefi
Arend Sidow
Christopher C Chang
Christopher E Mason
Chunlin Xiao
David Catoe
P2860
P2888
P304
P3181
P356
10.1038/SDATA.2016.25
P407
P577
2016-06-07T00:00:00Z
P6179
1041924932