The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
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Citations
Cites
1 retracted
Copy number variations and cancer susceptibility
Shlien, A., & Malkin, D. (2010) · Current Opinion in Oncology · doi:10.1097/cco.0b013e328333dca4 · Cited by 77 · cited 1×
“A number of studies have implicated deletion and duplication CNVs in cancer susceptibility, metastasis, gene expression, and treatment.(2) Similarly, rare CNVs are enriched in individuals with severe neuropsychiatric conditions, such as autism (MIM 209850), schizophrenia (MIM 181500), intellectual disability, and epil…”
BackgroundRetractedFast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Self-citationAccurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Mapping copy number variation by population-scale genome sequencing
1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140
Self-citationKirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.154 · Cited by 844 · cited 4×
“In fact, copynumber changes are the variants that have the largest known effect on the risk of schizophrenia possibly as a result of the constant introduction of de novo germline mutations.(7) However, knowledge regarding the scope of CNV effects on disease is still incomplete.”
BackgroundMethodInfluentialSelf-citationThe Wellcome Trust Case Control Consortium (2010) · Nature · doi:10.1038/nature08979 · Cited by 807
Cited by
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Talevich, E., Shain, A. H., Botton, T., & Bastian, B. C. (2016) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004873 · Cited by 2,094
Excess of rare, inherited truncating mutations in autism
Krumm, N., Turner, T. N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B. P., Stessman, H. A., He, Z.-X., et al. (2015) · Nature Genetics · doi:10.1038/ng.3303 · Cited by 587
Global diversity, population stratification, and selection of human copy-number variation
Sudmant, P. H., Mallick, S., Nelson, B. J., Hormozdiari, F., Krumm, N., Huddleston, J., Coe, B. P., Baker, C., Nordenfelt, S., Bamshad, M., et al. (2015) · Science · doi:10.1126/science.aab3761 · Cited by 345
Effect of predicted protein-truncating genetic variants on the human transcriptome
Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science · doi:10.1126/science.1261877 · Cited by 313
Self-citationExome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0093-8 · Cited by 247
Metadata
- Authors
- Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., Handsaker, R. E., McCarroll, S. A., O’Donovan, M. C., Owen, M. J., Kirov, G., Sullivan, P. F., Hultman, C. M., Sklar, P., & Purcell, S. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-10
- Volume
- 91
- Issue
- 4
- Pages
- 597-607
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2114034064
- Cited by
- 563
- References
- 12
- FWCI
- 21.26
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth. https://app.cochat.ai/papers/10.1016/j.ajhg.2012.08.005
- The paper
- Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., Handsaker, R. E., McCarroll, S. A., O’Donovan, M. C., Owen, M. J., Kirov, G., Sullivan, P. F., Hultman, C. M., Sklar, P., & Purcell, S. M. (2012). Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.08.005
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
