ArticleNucleic acids research2008
Modeling genetic inheritance of copy number variations.
Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed.
- Exploration of Regulatory Elements, MicroRNAs, and Copy Number Variation in Urogenital Chlamydia Reinfection in African American Women.International journal of molecular sciences · 2026Article
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- Copy Number Variant Duplications Associated with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Association of neurotransmitter pathway polygenic risk with specific symptom profiles in psychosis.Molecular psychiatry · 2024Article
- Association of neurotransmitter pathway polygenic risk with specific symptom profiles in psychosis.medRxiv : the preprint server for health sciences · 2023Article
- Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes.Animals : an open access journal from MDPI · 2023Article
- Article
- Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men.International journal of molecular sciences · 2023Article
- Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- Recurrent Rare Copy Number Variants Increase Risk for Esotropia.Investigative ophthalmology & visual science · 2020Article
- Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions.Toxicology · 2020Review
- Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines.BMC medical genomics · 2019Article
- Detection of de novo copy number deletions from targeted sequencing of trios.Bioinformatics (Oxford, England) · 2019Article
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.NPJ genomic medicine · 2019Article
- Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.Frontiers in genetics · 2019Article
- Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity.BMC genetics · 2018Article
- Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.Psychiatric genetics · 2017Article
- Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.BMC urology · 2016Article
- qKAT: a high-throughput qPCR method for KIR gene copy number and haplotype determination.Genome medicine · 2016Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping techniques, most CNV detection methods are limited to detecting total copy numbers, rather than copy number in each of the two homologous chromosomes. To address this issue, we developed a statistical framework for intensity-based CNV detection platforms using family data. Our algorithm identifies CNVs for a family simultaneously, thus avoiding the generation of calls with Mendelian inconsistency while maintaining the ability to detect de novo CNVs. Applications to simulated data and real data indicate that our method significantly improves both call rates and accuracy of boundary inference, compared to existing approaches. We further illustrate the use of Mendelian inheritance to infer SNP allele compositions in each of the two homologous chromosomes in CNV regions using real data. Finally, we applied our method to a set of families genotyped using both the Illumina HumanHap550 and Affymetrix genome-wide 5.0 arrays to demonstrate its performance on both inherited and de novo CNVs. In conclusion, our method produces accurate CNV calls, gives probabilistic estimates of CNV transmission and builds a solid foundation for the development of linkage and association tests utilizing CNVs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.