Article

An open resource of structural variation for medical and population genetics

2019-03-14

Abstract excerpt

<h4>SUMMARY</h4> Structural variants (SVs) rearrange large segments of the genome and can have profound consequences for evolution and human diseases. As national biobanks, disease association studies, and clinical genetic testing grow increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD) have become integral for interpreting genetic variation. To date,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1545b73-c591-5c39-aa47-c2384364643a
DOI: 10.1101/578674

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An open resource of structural variation for medical and population geneticsDOI 10.1101/578674Read

A structural variation reference for medical and population genetics.Semantic proximity Read

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomesSemantic proximity Read

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Semantic proximity Read

An integrated map of structural variation in 2,504 human genomes.Semantic proximity Read

Mapping copy number variation by population-scale genome sequencing.Semantic proximity Read

Complex de novo structural variants are an underestimated cause of rare disordersSemantic proximity Read

Automatic detection of complex structural genome variation across world populationsSemantic proximity Read

Mapping and characterization of structural variation in 17,795 human genomes.Semantic proximity Read

Multi-platform discovery of haplotype-resolved structural variation in human genomesSemantic proximity Read

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome SequencingSemantic proximity Read

Structural variation across 138,134 samples in the TOPMed consortiumSemantic proximity Read

Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive ConditionsSemantic proximity Read