{"cited_by_count":1272923,"description":"This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques.","display_name":"Genomic variations and chromosomal abnormalities","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T11213","wikipedia":"https://en.wikipedia.org/wiki/Copy-number_variation"},"field_id":"13","id":"T11213","keywords":[{"display_name":"copy number variation","id":"copy-number-variation","score":0.232,"url":"https://openalex.org/keywords/copy-number-variation"},{"display_name":"22q11.2 deletion syndrome","id":"22q11-2-deletion-syndrome","score":0.3118,"url":"https://openalex.org/keywords/22q11-2-deletion-syndrome"},{"display_name":"array comparative genomic hybridization","id":"array-based-comparative-genomic-hybridization","score":0.4021,"url":"https://openalex.org/keywords/array-based-comparative-genomic-hybridization"},{"display_name":"facial dysmorphism","id":"facial-dysmorphism","score":0.2023,"url":"https://openalex.org/keywords/facial-dysmorphism"},{"display_name":"chromosome banding","id":"chromosome-banding","score":0.2496,"url":"https://openalex.org/keywords/chromosome-banding"},{"display_name":"dysmorphic features","id":"dysmorphism","score":0.3004,"url":"https://openalex.org/keywords/dysmorphism"},{"display_name":"human chromosomes","id":"human-chromosomes","score":0.3541,"url":"https://openalex.org/keywords/human-chromosomes"},{"display_name":"chromosomal deletion","id":"chromosomal-deletion","score":0.2732,"url":"https://openalex.org/keywords/chromosomal-deletion"},{"display_name":"balanced translocation","id":"balanced-translocation","score":0.481,"url":"https://openalex.org/keywords/balanced-translocation"},{"display_name":"comparative genomic hybridization","id":"comparative-genomic-hybridization","score":0.2745,"url":"https://openalex.org/keywords/comparative-genomic-hybridization"},{"display_name":"chromosomal microarray analysis","id":"chromosomal-microarray","score":0.2807,"url":"https://openalex.org/keywords/chromosomal-microarray"},{"display_name":"molecular cytogenetics","id":"molecular-cytogenetics","score":0.3047,"url":"https://openalex.org/keywords/molecular-cytogenetics"},{"display_name":"interstitial deletion","id":"interstitial-deletion","score":0.5371,"url":"https://openalex.org/keywords/interstitial-deletion"},{"display_name":"reciprocal translocation","id":"reciprocal-translocation","score":0.21,"url":"https://openalex.org/keywords/reciprocal-translocation"},{"display_name":"structural variant calling","id":"structural-variant-calling","score":0.495,"url":"https://openalex.org/keywords/structural-variant-calling"},{"display_name":"G-banding","id":"g-banding","score":0.2509,"url":"https://openalex.org/keywords/g-banding"},{"display_name":"cytogenetic diagnosis","id":"cytogenetic-diagnosis","score":0.3334,"url":"https://openalex.org/keywords/cytogenetic-diagnosis"},{"display_name":"marker chromosomes","id":"marker-chromosomes","score":0.3164,"url":"https://openalex.org/keywords/marker-chromosomes"},{"display_name":"chromosomal mosaicism","id":"chromosomal-mosaicism","score":0.244,"url":"https://openalex.org/keywords/chromosomal-mosaicism"},{"display_name":"pericentric inversion","id":"pericentric-inversion","score":0.3051,"url":"https://openalex.org/keywords/pericentric-inversion"},{"display_name":"microdeletion syndromes","id":"microdeletion-syndromes","score":0.6003,"url":"https://openalex.org/keywords/microdeletion-syndromes"},{"display_name":"unbalanced translocation","id":"unbalanced-translocation","score":0.4657,"url":"https://openalex.org/keywords/unbalanced-translocation"},{"display_name":"chromosome 22","id":"chromosome-22","score":0.2521,"url":"https://openalex.org/keywords/chromosome-22"},{"display_name":"de novo deletion","id":"de-novo-deletion","score":0.5375,"url":"https://openalex.org/keywords/de-novo-deletion"},{"display_name":"breakpoint mapping","id":"breakpoint-mapping","score":0.4896,"url":"https://openalex.org/keywords/breakpoint-mapping"}],"legacy_keywords":["Genomic Rearrangements","Copy Number Variation","Structural Variation","Chromosomal Aberrations","Segmental Duplications","Microarray Analysis","Human Genome","Neurodevelopmental Disorders","Cancer Genomes","High-Resolution Mapping"],"openalex_id":"https://openalex.org/T11213","source_created_date":"2024-01-23T15:27:09","source_updated_date":"2026-10-17T03:02:00","subfield_id":"1311","url":"/topics/T11213","works_api_url":"https://api.openalex.org/works?filter=topics.id:T11213","works_count":69810,"label":"Genomic variations and chromosomal abnormalities","provider":"openalex","revision":"8ef48fb7015f8ee6","taxonomy_revision":"f050b5d4780b1289","title":"Genomic variations and chromosomal abnormalities","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"36174536131276367","address_version":"morton4x16-v1","coordinates":[1,13,1311,11213],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}