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Human research

Publication BMC Genomics

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

December 11, 2023

Human research
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Publication Nature Biotechnology

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

December 11, 2023

Human research
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Publication bioRxiv

Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation

June 12, 2023

Human research
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Publication Communities and Projects

Making Reference Genomes Useful: Annotation

April 1, 2023

Human research
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Publication medRxiv

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

January 22, 2023

Human research
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Publication Biomolecules

Genetic Predisposition to Neurological Complications in Patients with COVID-19

January 9, 2023

Human research
Covid-19
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Publication Nature

Semi-automated assembly of high-quality diploid human reference genomes

October 19, 2022

Human research
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Publication bioRxiv

Inversion polymorphism in a complete human genome assembly

October 6, 2022

Human research
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Publication bioRxiv

Quartet DNA reference materials and datasets for comprehensively evaluating germline variants calling performance

September 28, 2022

Human research
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Publication Human Mutation

A survey of current methods to detect and genotype inversions

September 1, 2022

Human research
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