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Chromosomal haplotypes by genetic phasing of human familiesA field guide to whole-genome sequencing, assembly and annotationGenetics of type 1 diabetesAnnotating individual human genomesMolecular basis for population variation: from SNPs to SAPsOmics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsProbing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencingDetermination of haplotypes at structurally complex regions using emulsion haplotype fusion PCRLimitations of the human reference genome for personalized genomicsIndividualized medicine from prewomb to tombAn EM algorithm based on an internal list for estimating haplotype distributions of rare variants from pooled genotype dataExtending partial haplotypes to full genome haplotypes using chromosome conformation capture data.Fabricating nanopores with diameters of sub-1 nm to 3 nm using multilevel pulse-voltage injectionPhased diploid genome assembly with single-molecule real-time sequencing.Rapid gene-based SNP and haplotype marker development in non-model eukaryotes using 3'UTR sequencing.Massively parallel haplotyping on microscopic beads for the high-throughput phase analysis of single molecules.Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencingAccurate whole-genome sequencing and haplotyping from 10 to 20 human cells.HapCompass: a fast cycle basis algorithm for accurate haplotype assembly of sequence data.A fast collapsed data method for estimating haplotype frequencies from pooled genotype data with applications to the study of rare variants.Haplotype estimation using sequencing reads.A fast and accurate algorithm for single individual haplotyping.Whole-genome haplotyping approaches and genomic medicine.Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.Integrating dilution-based sequencing and population genotypes for single individual haplotyping.Dominant sequences of human major histocompatibility complex conserved extended haplotypes from HLA-DQA2 to DAXXHaplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.Nonlinear dependence in the discovery of differentially expressed genes.Exploiting identifiability and intergene correlation for improved detection of differential expressionA comprehensively molecular haplotype-resolved genome of a European individualA haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysisHaplotype phasing: existing methods and new developments.Haplotype phasing and inheritance of copy number variants in nuclear families.Phasing of single DNA molecules by massively parallel barcoding.Concurrent whole-genome haplotyping and copy-number profiling of single cells.Fabrication of 3-nm-thick Si3N4 membranes for solid-state nanopores using the poly-Si sacrificial layer process.Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques.Allele-specific copy-number discovery from whole-genome and whole-exome sequencingA cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression.
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description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 08 February 2011
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The importance of phase information for human genomics.
@en
The importance of phase information for human genomics.
@nl
type
label
The importance of phase information for human genomics.
@en
The importance of phase information for human genomics.
@nl
prefLabel
The importance of phase information for human genomics.
@en
The importance of phase information for human genomics.
@nl
P2093
P2860
P356
P1476
The importance of phase information for human genomics.
@en
P2093
Ali Torkamani
Ryan Tewhey
Vikas Bansal
P2860
P2888
P304
P356
10.1038/NRG2950
P577
2011-02-08T00:00:00Z