Citation and references
How to cite
To credit GATK-SV, please cite the following publication:
Additional references
The following is a selected list of studies that have used GATK-SV:
- Belyeu JR et al. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. Am J Hum Genet. 2021 Apr 1;108(4):597-607.
- Billingsley KJ et al. Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 May;93(5):1012-1022.
- Byrska-Bishop M et al. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell. 2022 Sep 1;185(18):3426-3440.e19.
- Diaz Perez KK et al. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting. Genet Med. 2023 Oct;25(10):100918.
- Gillani R et al. Rare germline structural variants increase risk for pediatric solid tumors. bioRxiv [Preprint]. 2024 Apr 29:2024.04.27.591484.
- Han L et al. Functional annotation of rare structural variation in the human brain. Nat Commun. 2020 Jun 12;11(1):2990.
- Jurgens JA et al. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17:101216.
- Kaivola K et al. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell Genom. 2023 May 4;3(6):100316.
- Koenig Z et al. A harmonized public resource of deeply sequenced diverse human genomes. Genome Res. 2024 Jun 25;34(5):796-809.
- Lee AS et al. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Nat Commun. 2024 Sep 27;15(1):8268.
- Lowther C et al. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469.
- Werling DM et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018 Apr 26;50(5):727-736.
- Wojcik MH et al. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997.
- Zhao B et al. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 Sep;30(9):1083-1087.