A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Open accessAbstract
Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, SNP-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and common CNVs in large cohorts. This approach is customizable, cost effective, highly parallelized, and largely automated. We applied this method to screen 69 loci in 1105 children with unexplained intellectual disability, identifying pathogenic variants in 3.1% of these individuals and potentially pathogenic variants in an additional 2.3%. We identified seven individuals (0.7%) with a deletion of 16p11.2, which has been previously associated with autism. Our results widen the phenotypic spectrum of these deletions to include intellectual disability without autism. We also detected 1.65–3.4 Mbp duplications at 16p13.11 in 1.1% of affected individuals and 350 kbp deletions at 15q11.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8% of affected individuals. Compared to published CNVs in controls they are significantly (P = 4.7 × 10−5 and 0.003, respectively) enriched in these children, supporting previously published hypotheses that they are neurocognitive disease risk factors. More generally, this approach offers a previously unavailable balance between customization, cost, and throughput for analysis of CNVs and should prove valuable for targeted CNV detection in both research and diagnostic settings.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
16p11.2 deletions and duplications have been found in individuals with ASD, intellectual disability, seizure disorder, obesity, macrocephaly, and schizophrenia.
“chromosome 16p11.2 deletions and duplications have been found in individuals with ASD and intellectual disability (ID) (Weiss et al., 2008), seizure disorder (Mefford et al., 2009), obesity (Bochukova et al., 2010), macrocephaly, and schizophrenia (McCarthy et al., 2009).”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Mefford et al., 2009
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Maximum Likelihood from Incomplete Data Via the <i>EM</i> Algorithm
Dempster, A. P., Laird, N. M., & Rubin, D. B. (1977) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1977.tb01600.x · Cited by 50,444 · see citing works
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
Self-citationLarge 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 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355 · see citing works
Self-citationMapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works
Self-citationRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
Self-citationRecurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
Common deletion polymorphisms in the human genome
McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701 · see citing works
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658 · see citing works
Self-citationAssociation Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605 · see citing works
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · see citing works
Self-citationA recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Self-citationVissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379977 · Cited by 469 · cited 1× · see citing works
“This is particularly true for neurocognitive disorders like intellectual disability (ID), autism, and schizophrenia (Christian et al. 2008; de Vries et al. 2005; Friedman et al. 2006; International Schizophrenia Consortium 2008; Kirov et al. 2009; Kumar et al. 2008; Marshall et al. 2008; Rosenberg et al. 2006; Sebat e…”
BackgroundMiller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp043 · Cited by 390 · see citing works
van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 356 · see citing works
Self-citationHannes, F., Sharp, A. J., Mefford, H. C., de Ravel, T. J. L., Ruivenkamp, C. A. L., Breuning, M. H., Fryns, J., Devriendt, K., Buggenhout, G. V., Vogels, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055202 · Cited by 344 · see citing works
Self-citationOligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
Friedman, J. M., Baross, Á., Delaney, A. D., Ally, A., Arbour, L. T., Asano, J. K., Bailey, D. K., Barber, S., Birch, P. H., Brown-John, M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507471 · Cited by 328 · see citing works
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299 · see citing works
Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298 · see citing works
Ullmann, R., TURNER, G. M., Kirchhoff, M., Chen, W., Tonge, B. J., Rosenberg, C., Field, M., Vianna‐Morgante, A. M., Christie, L., Krepischi, A. C. V., et al. (2007) · Human Mutation · doi:10.1002/humu.20546 · Cited by 287 · see citing works
Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works
Mefford, H. C., Clauin, S., Sharp, A. J., Møller, R. S., Ullmann, R., Kapur, R. P., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522591 · Cited by 268 · see citing works
Self-citationRosenberg, C., Knijnenburg, J., Bakker, E., Vianna‐Morgante, A. M., Sloos, W. C. R., Otto, P. A., Kriek, M., Hansson, K. B. M., Krepischi, A. C. V., Fiegler, H., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.032268 · Cited by 236 · see citing works
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Cooper, G. M., Zerr, T., Kidd, J. M., Eichler, E. E., & Nickerson, D. A. (2008) · Nature Genetics · doi:10.1038/ng.236 · Cited by 231 · see citing works
Self-citationDuplication hotspots, rare genomic disorders, and common disease
Mefford, H. C., & Eichler, E. E. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.003 · Cited by 202 · see citing works
Self-citationExtending genome-wide association studies to copy-number variation
McCarroll, S. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn282 · Cited by 196 · see citing works
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 174 · see citing works
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome
Hartley, S. L., MacLean, W. E., Butler, M. G., Zarcone, J., & Thompson, T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30771 · Cited by 112 · see citing works
Sahoo, T., Peters, S. U., Madduri, N. S., Glaze, D. G., German, J. R., Bird, L. M., Barbieri-Welge, R., Bichell, T. J., Beaudet, A. L., & Bacino, C. A. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036913 · Cited by 95 · see citing works
Direct detection of null alleles in SNP genotyping data
Carlson, C. S., Smith, J. D., Stanaway, I. B., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl115 · Cited by 45 · see citing works
Self-citationHigh-throughput genotyping of intermediate-size structural variation
Newman, T. L., Rieder, M. J., Morrison, V., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl031 · Cited by 26 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630 · see citing works
Self-citationA copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works
Self-citationSanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Self-citationPhenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1200395 · Cited by 621 · see citing works
Self-citationWilliams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
Self-citationGenomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329 · see citing works
Self-citationHanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.04.021 · Cited by 277 · see citing works
Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260 · see citing works
Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22645 · Cited by 247 · see citing works
Self-citationThe genetics of neurodevelopmental disease
Mitchell, K. J. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2010.08.009 · Cited by 164 · see citing works
Cognitive and behavioral characterization of 16p11.2 deletion syndrome
Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ea50ed · Cited by 125 · see citing works
Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a06 · Cited by 115 · see citing works
A universal carrier test for the long tail of Mendelian disease
Srinivasan, B. S., Evans, E. A., Flannick, J., Patterson, A. S., Chang, C. C., Pham, T., Young, S., Kaushal, A., Lee, J., Jacobson, J. L., et al. (2010) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2010.05.012 · Cited by 105 · see citing works
15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems
von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.008 · Cited by 86 · see citing works
Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., Rieder, M. J., Smyth, M. D., Speltz, M. L., Eichler, E. E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33557 · Cited by 78 · see citing works
Self-citationWalsh, K. M., & Bracken, M. B. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182076c0c · Cited by 65 · see citing works
Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
on behalf of the Simons VIP consortium, Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., Gerdts, J., Kanne, S., Berry, L., et al. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2807-4 · Cited by 61 · see citing works
The role of copy number variation in schizophrenia
Kirov, G. (2010) · Expert Review of Neurotherapeutics · doi:10.1586/ern.09.133 · Cited by 52 · see citing works
- Authors
- Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Mayo Clinic (US)
- Greenwood Genetic Center (US)
- Howard Hughes Medical Institute (US)
- ORCID
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2009-06-08
- Volume
- 19
- Issue
- 9
- Pages
- 1579-1585
- ISSN
- 1088-9051 (ISSN-L)
- PMC
- PMC2752120
- OpenAlex
- W2162330264
- Cited by
- 132
- References
- 40
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 6 · 2019: 2 · 2018: 4 · 2017: 4 · 2016: 8 · 2015: 11 · 2014: 16 · 2013: 8 · 2012: 15
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genome Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (NIH K12)
- National Heart, Lung, and Blood Institute (HL 66682, HL66642, U01HL066682, U01HL066642)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043376, HD043569, K12HD043376, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- copy number variation, intellectual disability, 16p11.2 deletion, autism spectrum disorder, pathogenic variant identification
- MeSH terms
- Algorithms, Autistic Disorder, Child, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Cognition Disorders, Genotype, Humans, Intellectual Disability, Prader-Willi Syndrome, Time Factors, Genetic Variation, Genome, Human, Gene Deletion, Gene Dosage, Computational Biology, Gene Duplication, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
