Human research Archives - Page 8 of 10

Publication Genes

De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

October 9, 2018

Human research

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Publication RECOMB International Conference on Comparative Genomics

Detecting Large Indels Using Optical Map Data

September 9, 2018

Human research

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Publication Copy Number Variants

Structural Variation Detection and Analysis Using Bionano Optical Mapping

July 24, 2018

Human research

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Publication Nucleic Acids Research

Human copy number variants are enriched in regions of low mappability

February 21, 2018

Human research

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Publication Genome Biology

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

December 1, 2017

Human research

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Publication bioRxiv

Genome-Wide Identification of Early-Firing Human Replication Origins by Optical Replication Mapping

November 6, 2017

Human research

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Publication Nature

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

July 26, 2017

Human research

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Publication Genome Research

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

April 10, 2017

Human research

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Publication Genome Research

Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

March 3, 2017

Human research

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Publication bioRxiv

Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping

February 14, 2017

Human research

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Human research

Publication Genes

De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Publication RECOMB International Conference on Comparative Genomics

Detecting Large Indels Using Optical Map Data

Publication Copy Number Variants

Structural Variation Detection and Analysis Using Bionano Optical Mapping

Publication Nucleic Acids Research

Human copy number variants are enriched in regions of low mappability

Publication Genome Biology

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

Publication bioRxiv

Genome-Wide Identification of Early-Firing Human Replication Origins by Optical Replication Mapping

Publication Nature

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Publication Genome Research

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Publication Genome Research

Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Publication bioRxiv

Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping

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Human research

Publication Genes

De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Publication RECOMB International Conference on Comparative Genomics

Detecting Large Indels Using Optical Map Data

Publication Copy Number Variants

Structural Variation Detection and Analysis Using Bionano Optical Mapping

Publication Nucleic Acids Research

Human copy number variants are enriched in regions of low mappability

Publication Genome Biology

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

Publication bioRxiv

Genome-Wide Identification of Early-Firing Human Replication Origins by Optical Replication Mapping

Publication Nature

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Publication Genome Research

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Publication Genome Research

Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Publication bioRxiv

Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping

Stay up-to-date on cutting-edge genetic analysis. Subscribe to our newsletter.