ArticleNature methods2013
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.
Article in Nature methods, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.bioRxiv : the preprint server for biology · 2026Article
- Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.Cell reports methods · 2024Article
- Genetic Variation Within theDiabetes · 2019Article
- Long-read sequence and assembly of segmental duplications.Nature methods · 2019Article
- Article
- Longitudinal report of child with de novo 16p11.2 triplication.Clinical case reports · 2018Article
- Mind the (sr)GAP - roles of Slit-Robo GAPs in neurons, brains and beyond.Journal of cell science · 2017Review
- A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.European journal of human genetics : EJHG · 2017Article
- Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.Nature communications · 2017Article
- The birth of a human-specific neural gene by incomplete duplication and gene fusion.Genome biology · 2017Article
- The evolution and population diversity of human-specific segmental duplications.Nature ecology & evolution · 2017Article
- Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project.Blood advances · 2016Article
- Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.Nature · 2016Article
- Molecular Inversion Probes for targeted resequencing in non-model organisms.Scientific reports · 2016Article
- Interlocus gene conversion explains at least 2.7% of single nucleotide variants in human segmental duplications.BMC genomics · 2015Article
- microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes.Nucleic acids research · 2015Article
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.Nature genetics · 2014Article
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.Bioinformatics (Oxford, England) · 2014Article
- Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus.BMC genomics · 2014Article
- Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.BMC genomics · 2014Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Over 900 genes have been annotated within duplicated regions of the human genome, yet their functions and potential roles in disease remain largely unknown. One major obstacle has been the inability to accurately and comprehensively assay genetic variation for these genes in a high-throughput manner. We developed a sequencing-based method for rapid and high-throughput genotyping of duplicated genes using molecular inversion probes designed to target unique paralogous sequence variants. We applied this method to genotype all members of two gene families, SRGAP2 and RH, among a diversity panel of 1,056 humans. The approach could accurately distinguish copy number in paralogs having up to ∼99.6% sequence identity, identify small gene-disruptive deletions, detect single-nucleotide variants, define breakpoints of unequal crossover and discover regions of interlocus gene conversion. The ability to rapidly and accurately genotype multiple gene families in thousands of individuals at low cost enables the development of genome-wide gene conversion maps and 'unlocks' many previously inaccessible duplicated genes for association with human traits.
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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.