about
Modernizing reference genome assembliesPredicting the effects of frameshifting indelsHuman genetics and genomics a decade after the release of the draft sequence of the human genomeImproved exome prioritization of disease genes through cross-species phenotype comparisonUsing ERDS to infer copy-number variants in high-coverage genomesAccurate and comprehensive sequencing of personal genomesPrecision editing of large animal genomesMouse genetic and phenotypic resources for human geneticsAnnotating individual human genomesTDP2 protects transcription from abortive topoisomerase activity and is required for normal neural functionGenomic diversity and evolution of the head crest in the rock pigeonVariations in brain DNASimilarities and differences between exome sequences found in a variety of tissues from the same individualGetting personalized cancer genome analysis into the clinic: the challenges in bioinformaticsGenomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics researchExome sequencing: a transformative technologyA systematic survey of loss-of-function variants in human protein-coding genesAn association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretationA next-generation sequencing method for genotyping-by-sequencing of highly heterozygous autotetraploid potato.Large scale library generation for high throughput sequencing.Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnosticsReliable identification of genomic variants from RNA-seq dataThe low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sampleNext-generation diagnostics and disease-gene discovery with the ExomiserFinding disease genes: a fast and flexible approach for analyzing high-throughput data.Strategies for exome and genome sequence data analysis in disease-gene discovery projects.The role of replicates for error mitigation in next-generation sequencing.Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping.VPA: an R tool for analyzing sequencing variants with user-specified frequency pattern.Genome sequencing and analysis of Mangalica, a fatty local pig of HungarySVA: software for annotating and visualizing sequenced human genomesPhylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Kaviar: an accessible system for testing SNV novelty.Molecular genetic testing and the future of clinical genomics.Targeted deep sequencing of HIV-1 using the IonTorrentPGM platformPathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Characterisation and validation of insertions and deletions in 173 patient exomes
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The characterization of twenty sequenced human genomes.
@ast
The characterization of twenty sequenced human genomes.
@en
type
label
The characterization of twenty sequenced human genomes.
@ast
The characterization of twenty sequenced human genomes.
@en
prefLabel
The characterization of twenty sequenced human genomes.
@ast
The characterization of twenty sequenced human genomes.
@en
P2093
P2860
P50
P1433
P1476
The characterization of twenty sequenced human genomes.
@en
P2093
Abanish Singh
Alexander M McKenzie
C Ryan Campbell
Curtis E Gumbs
David B Goldstein
Dongliang Ge
Elizabeth K Ruzzo
Erin L Heinzen
James J Goedert
Jason P Smith
P2860
P304
P356
10.1371/JOURNAL.PGEN.1001111
P577
2010-09-09T00:00:00Z