Assessing structural variation in a personal genome-towards a human reference diploid genome. - Wikidata - wikimedia - TriplyDB

Assessing structural variation in a personal genome-towards a human reference diploid genome.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

http://www.wikidata.org/entity/Q35607005

about

Analysis of single nucleic acid molecules in micro- and nano-fluidics PacBio Sequencing and Its Applications Analysis of Pre-Analytic Factors Affecting the Success of Clinical Next-Generation Sequencing of Solid Organ Malignancies Next generation sequencing in endocrine practice Deep sequencing of 10,000 human genomes Major Improvements to the Heliconius melpomene Genome Assembly Used to Confirm 10 Chromosome Fusion Events in 6 Million Years of Butterfly Evolution.Structural variation mutagenesis of the human genome: Impact on disease and evolution.A genome-wide approach for detecting novel insertion-deletion variants of mid-range size Explorations to improve the completeness of exome sequencing Elucidation of quantitative structural diversity of remarkable rearrangement regions, shufflons, in IncI2 plasmids Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Finding the Genomic Basis of Local Adaptation: Pitfalls, Practical Solutions, and Future Directions.Scaffolding of long read assemblies using long range contact information.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.svclassify: a method to establish benchmark structural variant calls.Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.Discovery and genotyping of structural variation from long-read haploid genome sequence data.Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.Genome-wide characteristics of de novo mutations in autism Complete telomere-to-telomere de novo assembly of the Plasmodium falciparum genome through long-read (>11 kb), single molecule, real-time sequencing.Exome sequencing and whole genome sequencing for the detection of copy number variation.Assembly and analysis of 100 full MHC haplotypes from the Danish population Clinical genomics: from a truly personal genome viewpoint.Nanopore sequencing detects structural variants in cancer.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Deep whole-genome sequencing of 90 Han Chinese genomes.Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle.SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.An Incomplete Understanding of Human Genetic Variation.Mapping and phasing of structural variation in patient genomes using nanopore sequencing.Tools for annotation and comparison of structural variation.Long-read genome sequencing identifies causal structural variation in a Mendelian disease.OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse.Simulations of knotting of DNA during genome mapping.NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data.

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P2860

Assessing structural variation in a personal genome-towards a human reference diploid genome.

http://www.wikidata.org/entity/Q35607005

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P2860

The diploid genome sequence of an individual human

Towards a comprehensive structural variation map of an individual human genome

The diploid genome sequence of an Asian individual

LUMPY: a probabilistic framework for structural variant discovery.

Human genome sequencing in health and disease

An integrated map of genetic variation from 1,092 human genomes

Mapping and sequencing of structural variation from eight human genomes

The complete genome of an individual by massively parallel DNA sequencing

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

DELLY: structural variant discovery by integrated paired-end and split-read analysis

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