From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

doi:10.1186/s13073-019-0675-1

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Genome medicine - 7 Nov 2019

Lindstrand Anna, Eisfeldt Jesper, Pettersson Maria, Carvalho Claudia M B, Kvarnung Malin, Grigelioniene Giedre, Anderlid Britt-Marie, Bjerin Olof, Gustavsson Peter, Hammarsjö Anna, Georgii-Hemming Patrik, Iwarsson Erik, Johansson-Soller Maria, Lagerstedt-Robinson Kristina, Lieden Agne, Magnusson Måns, Martin Marcel, Malmgren Helena, Nordenskjöld Magnus, Norling Ameli, Sahlin Ellika, Stranneheim Henrik, Tham Emma, Wincent Josephine, Ygberg Sofia, Wedell Anna, Wirta Valtteri, Nordgren Ann, Lundin Johanna, Nilsson Daniel

Abstract excerpt

BACKGROUND: Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test. METHODS: We analyzed three cohorts with short-read WGS: (i) a retrospective cohort with validated copy...

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PMID: 31694722
DOI: 10.1186/s13073-019-0675-1
PMCID: PMC6836550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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