Mendel: the Swiss army knife of genetic analysis programs
Open accessAbstract
Summary: Mendel is one of the few statistical genetics packages that provide a full spectrum of gene mapping methods, ranging from parametric linkage in large pedigrees to genome-wide association with rare variants. Our latest additions to Mendel anticipate and respond to the needs of the genetics community. Compared with earlier versions, Mendel is faster and easier to use and has a wider range of applications. Supported platforms include Linux, MacOS and Windows. Availability: Free from www.genetics.ucla.edu/software/mendel Contact: klange@ucla.edu Supplementary information: Supplementary data are available at Bioinformatics online.
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Because of high endogamy and consanguinity, not all related individuals could be removed without markedly reducing sample size; association testing was performed with Mendel Ped-GWAS to account for relatedness.
“Also, with the high endogamy and consanguinity in the cohort, we could not remove all related individuals from the analysis without markedly reducing our sample size. To address this, we performed association testing with the Mendel software package (v.14.3) using the Ped-GWAS option30 designed for use with a mixture of related and unrelated individuals.”
From Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease (2015) · cites this paper as [30]
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GENLIB: an R package for the analysis of genealogical data
Gauvin, H., Lefebvre, J.-F., Moreau, C., Lavoie, È.-M., Labuda, D., Vézina, H., & Roy‐Gagnon, M. (2015) · BMC Bioinformatics · doi:10.1186/s12859-015-0581-5 · Cited by 21 · see citing works
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Fedko, I. O., Hottenga, J., Helmer, Q., Mbarek, H., Huider, F., Amin, N., Beulens, J. W. J., Bremmer, M. A., Elders, P. J. M., Galesloot, T. E., et al. (2020) · Psychological Medicine · doi:10.1017/s0033291720000100 · Cited by 20 · see citing works
“Finally, we estimated a genetic correlation between MDD as assessed by LIDAS and clinical MDD as assessed by CIDI, as estimated in the Mendel software package for pedigree analyses (Lange et al., 2013).”
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“The MENDEL software was used to conduct survival analyses, as it allowed the integration of the GBC incidence rates from Chile as the baseline hazard.(11,12) To assess model overfitting and overoptimistic predictions through internal validation, all”
MethodKlimentidis, Y. C., Lemas, D. J., Wiener, H. W., O’Brien, D. M., Havel, P. J., Stanhope, K. L., Hopkins, S. E., Tiwari, H. K., & Boyer, B. B. (2013) · Journal of Diabetes · doi:10.1111/1753-0407.12093 · Cited by 19 · see citing works
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Phillips, B. C., Rodrigues, N., van Rensburg, A. J., & Perrin, N. (2019) · Evolution · doi:10.1111/evo.13860 · Cited by 17 · see citing works
“…(65° 58′ 12.6′′N, 16° 12′ 43.8′′ E; 416 m asl) only contains XY males with fully differentiated Y chromosomes, whereas the southern population of Tvedöra (55°42′ 0.85′′ N, 13° 25′ 50.91′′ E; 20 m asl) mostly harbors XY°males with proto-sex chromosomes (Rodrigues et al. 2014; Ma et al. 2016).”
BackgroundMethodInfluentialFamily-based approaches: design, imputation, analysis, and beyond
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“Several different implementations were used by participants, including MONSTER (minimum p value optimized nuisance parameter score test extended to relatives) [61], GEMMA (genome-wide efficient mixedmodel analysis) [62], FARVAT (family-based rare variant association test) VC [63], Mendel [64], and implementations deri…”
MethodInfluentialGenetic Susceptibility in Acute Pancreatitis
Martins, F. O., Gomes, B. C., Rodrigues, A. S., & Rueff, J. (2016) · Pancreas · doi:10.1097/mpa.0000000000000707 · Cited by 17 · see citing works
“2 (UCLA Human Genetics, Los Angeles, Calif ).(25) The Kolmogorov-Smirnov and Shapiro-Wilk tests were used to verify the normality of continuous variables, and the Levene test was used to analyze the homogeneity of variances.”
MethodClark, M. M., Chazara, O., Sobel, E. M., Gjessing, H. K., Magnus, P. M., Moffett, A., & Sinsheimer, J. S. (2016) · Human Heredity · doi:10.1159/000456033 · Cited by 15 · see citing works
Self-citationMulti-Omics Advancements towards Plasmodium vivax Malaria Diagnosis
Aggarwal, S., Peng, W. K., & Srivastava, S. (2021) · Diagnostics · doi:10.3390/diagnostics11122222 · Cited by 16 · see citing works
Franklin, A. D., Schmidt‐Küntzel, A., Terio, K. A., Marker, L. L., & Crosier, A. E. (2015) · Journal of Heredity · doi:10.1093/jhered/esv089 · Cited by 15 · see citing works
“Allele frequencies for the captive North American and wild Namibian cheetah populations were estimated using the software MENDEL (Lange et al. 2013) utilizing known genotypes and complete pedigree information available for all individuals.”
Influentialvan de Weijer, M. P., Pelt, D. H. M., de Vries, L. P., Huider, F., van der Zee, M. D., Helmer, Q., Ligthart, L., Willemsen, G. A. H. M., Boomsma, D. I., de Geus, E. J. C., et al. (2022) · Genes Brain & Behavior · doi:10.1111/gbb.12796 · Cited by 15 · see citing works
Haplotype Estimation and Genotype Imputation
Marchini, J. (2019) · doi:10.1002/9781119487845.ch3 · Cited by 15 · see citing works
An Extended Twin-Pedigree Study of Different Classes of Voluntary Exercise Behavior
van der Zee, M. D., Helmer, Q., Boomsma, D. I., Dolan, C. V., & de Geus, E. J. C. (2020) · Behavior Genetics · doi:10.1007/s10519-019-09990-7 · Cited by 14 · see citing works
Russell, E. M., Carlson, J. C., Krishnan, M., Hawley, N. L., Sun, G., Cheng, H., Naseri, T. K., Reupena, M. S., Viali, S., Tuitele, J., et al. (2022) · BMJ Open Diabetes Research & Care · doi:10.1136/bmjdrc-2021-002275 · Cited by 13 · see citing works
Analysis of linkage and linkage disequilibrium for syntenic STRs on 12 chromosomes
Wu, W., Hao, H., Liu, Q., Han, X., Wu, Y., Cheng, J., & Lü, D.-J. (2014) · International Journal of Legal Medicine · doi:10.1007/s00414-014-1032-y · Cited by 13 · see citing works
Mega2: validated data-reformatting for linkage and association analyses
Baron, R. V., Kollar, C., Mukhopadhyay, N., & Weeks, D. E. (2014) · Source Code for Biology and Medicine · doi:10.1186/s13029-014-0026-y · Cited by 12 · see citing works
“For example, one might want to use pedstats [1] to check for data validity, PREST [2,3] to check for relationship errors, SOLAR [4,5] to test for linkage, and Mendel [6-8] to test for association in the presence of linkage.”
MethodChu, B. B., Keys, K. L., German, C., Zhou, H., Zhou, J. J., Sobel, E. M., Sinsheimer, J. S., & Lange, K. L. (2020) · GigaScience · doi:10.1093/gigascience/giaa044 · Cited by 12 · see citing works
“Readers can reproduce our results by accessing the software, documentation, and Jupyter notebooks on our Github page: https://github.com/OpenMendel/MendelIHT.jl”
MethodInfluentialSelf-citationFast Genome‐Wide QTL Association Mapping on Pedigree and Population Data
Zhou, H., Blangero, J., Dyer, T. D., Chan, K. H. K., Lange, K. L., & Sobel, E. M. (2016) · Genetic Epidemiology · doi:10.1002/gepi.21988 · Cited by 12 · see citing works
“4 Other Utilities for Handling Pedigree Data To encourage thorough testing of new statistical methods, such as the current Ped-GWAS score test, we have implemented both genotype and trait simulation in our genetic analysis program MENDEL [Lange et al. 2013].”
BackgroundMethodSelf-citationAlarcon, F., Planté‐Bordeneuve, V., Olsson, M. B., & Nuel, G. (2018) · PLoS ONE · doi:10.1371/journal.pone.0203860 · Cited by 10 · see citing works
“This cut-set version of Elston-Stewart (as well as variants of Lander-Green [17] for multi-point analysis) is implemented in the well-known Mendel software [18] which can efficiently perform likelihood computations in complex pedigrees.”
MethodGood, D. M., Duffy, D. L., Good, M., Guo, C. X., Busfield, F., Shaw, A., & Shaw, J. T. E. (2019) · Twin Research and Human Genetics · doi:10.1017/thg.2019.13 · Cited by 10 · see citing works
“We also used MENDEL 16.0 (Lange et al., 2013) to perform individual SNP and haplotype logistic regression-based association analysis, including birth year and sex as covariates.”
MethodInfluentialFamilial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk
Nguyen, T. L., Li, S., Dowty, J. G., Dite, G. S., Ye, Z., Nguyen‐Dumont, T., Trinh, H. N., Evans, C. F., Tan, M., Sung, J., et al. (2022) · Cancers · doi:10.3390/cancers14061483 · Cited by 9 · see citing works
Recombination analysis of autosomal short tandem repeats in C hinese H an families
Liu, Q., Luo, H., Zhao, H., Huang, X., Cheng, J., & Lü, D.-J. (2013) · Electrophoresis · doi:10.1002/elps.201300417 · Cited by 9 · see citing works
Göbel, T. M. K., Bodner, M., Robino, C., Augustin, C., Huber, G. E., Marra, M., Mutesa, L., Pasino, S., Santovito, A., Zimmermann, B., et al. (2019) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2019.102202 · Cited by 9 · see citing works
“X-STRs [19] were additionally considered for the latter dataset using Mendel [23].”
MethodPotential of 13 linked autosomal short tandem repeat loci in pairwise kinship analysis
Liu, Q., Li, X., Wu, W., He, X., Liu, K., Zhao, H., & Lu, D. (2016) · Electrophoresis · doi:10.1002/elps.201600238 · Cited by 9 · see citing works
Nikkola, E., Ko, A., Alvarez, M., Cantor, R. M., Garske, K. M., Kim, E., Gee, S., Rodríguez, A., Muxel, R., Matikainen, N., et al. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.07.024 · Cited by 9 · see citing works
“Combining linkage analysis with whole-exome sequencing has become a common approach to pinpoint candidate chromosomal regions and specific variants for Mendelian diseases [10,11].”
InfluentialA Multipurpose Microhaplotype Panel for Genetic Analysis of California Chinook Salmon
Anderson, E. C., Clemento, A. J., Campbell, M. A., Pearse, D. E., Beulke, A. K., Columbus, C. D., Campbell, E., Thompson, N. F., & Garza, J. C. (2025) · Evolutionary Applications · doi:10.1111/eva.70110 · Cited by 8 · see citing works
“The FNRs were estimated in each case using simple Monte Carlo taking account of the physical linkage of the markers by input-ting their genomic positions into “CKMRsim” and using the package's interface to the MENDEL (Lange et al. 2013) software to simulate genotypes of related pairs in the presence of physical linkag…”
Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan
Kamiza, A. B., Wang, W., You, J., Tang, R., Chien, H., Lai, C., Chiu, L.-L., Lo, T.-P., Hung, K., Hsiung, C. A., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-88289-2 · Cited by 8 · see citing works
Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse
Tomberg, K., Westrick, R. J., Kotnik, E. N., Siemieniak, D. R., Zhu, G., Saunders, T. L., Cleuren, A. C. A., & Ginsburg, D. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007658 · Cited by 8 · see citing works
An Effective Method to Identify Heritable Components from Multivariate Phenotypes
Sun, J., Kranzler, H. R., & Bi, J. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144418 · Cited by 7 · see citing works
Manley, W., Moreau, M., Azaro, M. A., Siecinski, S. K., Davis, G., Buyske, S. G., Vieland, V. J., Bassett, A. S., & Brzustowicz, L. M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194233 · Cited by 7 · see citing works
Butler, J. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405213-0.00010-5 · Cited by 7 · see citing works
Wang, T., He, P., Ahn, K. W., Wang, X., Ghosh, S., & Laud, P. W. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00120 · Cited by 7 · see citing works
Andersen, M. K., Jørsboe, E., Skotte, L., Hanghøj, K., Sandholt, C. H., Moltke, I., Grarup, N., Kern, T., Mahendran, Y., Søborg, B., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008544 · Cited by 7 · see citing works
“Allele frequencies for rs4936356 were estimated using the MENDEL program [54].”
MethodFrom Matched Certificates to Related Persons
Mourits, R. J., van Dijk, I. K., & Mandemakers, K. (2020) · Historical Life Course Studies · doi:10.51964/hlcs9310 · Cited by 7 · see citing works
Using an Event-History with Risk-Free Model to Study the Genetics of Alcoholism
Yang, H., Chen, I., Tsay, Y., Li, Z.-R. T., Chen, C., Hwu, H., & Chen, C. (2017) · Scientific Reports · doi:10.1038/s41598-017-01791-4 · Cited by 6 · see citing works
Javanrouh, N., Soltanian, A. R., Tapak, L., Azizi, F., Ott, J., & DANESHPOUR, M. S. (2018) · Genetic Epidemiology · doi:10.1002/gepi.22179 · Cited by 6 · see citing works
Li‐Gao, R., Boomsma, D. I., de Geus, E. J. C., Denollet, J., & Kupper, N. H. M. (2020) · Behavior Genetics · doi:10.1007/s10519-020-10023-x · Cited by 6 · see citing works
A Polynesian-specific missense CETP variant alters the lipid profile
Moors, J., Krishnan, M., Sumpter, N., Takei, R., Bixley, M., Cadzow, M. J., Major, T. J., Phipps‐Green, A. J., Topless, R., Merriman, M. E., et al. (2023) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2023.100204 · Cited by 5 · see citing works
Fast genome-wide pedigree quantitative trait loci analysis using MENDEL
Zhou, H., Zhou, J. J., Sobel, E. M., & Lange, K. L. (2014) · BMC Proceedings · doi:10.1186/1753-6561-8-s1-s93 · Cited by 5 · see citing works
Self-citationPeterson, C. B., Service, S. K., Jasinska, A. J., Gao, F., Zelaya, I., Teshiba, T. M., Bearden, C. E., Cantor, R. M., Reus, V. I., Macaya, G., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006046 · Cited by 5 · see citing works
“To identify genes with differential expression in the BP1 vs. non-BP1 individuals accounting for the correlation induced by relatedness, we used a variance components approach, as implemented in Mendel [10].”
InfluentialPuigdevall, P., Piccari, L., Blanco, I., Barberà, J. A., Geiger, D., Bádenas, C., Milà, M., Castelo, R., & Madrigal, I. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105669 · Cited by 5 · see citing works
Clark, M. M., Blangero, J., Dyer, T. D., Sobel, E. M., & Sinsheimer, J. S. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12137 · Cited by 4 · see citing works
“We implement the QMFG test by modifying the statistical genetics software package Mendel (Lange et al., 2013).”
MethodInfluentialSelf-citationPerera, N., Wijithalal, R., Galhena, G., & Ranawaka, G. R. (2022) · International Journal of Legal Medicine · doi:10.1007/s00414-021-02762-1 · Cited by 4 · see citing works
“The software Mendel v12 [21] based on maximum likelihood estimation (MLE) algorithm was used to carry out a pairwise linkage analyses by calculating the maximum LOD score for all pairs of markers [7].”
MethodIsaacs, A. J., Barysenka, A., ter Bekke, R. M. A., den Enden, A. T. J. M. H.-V., van den Wijngaard, A., Volders, P. G. A., & Stoll, M. (2023) · Heart Rhythm · doi:10.1016/j.hrthm.2023.02.004 · Cited by 4 · see citing works
Iterative hard thresholding for model selection in genome‐wide association studies
Keys, K. L., Chen, G. K., & Lange, K. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22068 · Cited by 4 · see citing works
“Mendel, gpu-lasso, and PLINK 1.9 beta have multicore acceleration capabilities, while SparSNP can be run on compute clusters.”
BackgroundMethodInfluentialSelf-citationGrange, L. J., Bureau, J., Nikolayeva, I., Paul, R. E. L., Steen, K. V., Schwikowski, B., & Sakuntabhai, A. (2015) · BMC Genetics · doi:10.1186/s12863-015-0174-3 · Cited by 3 · see citing works
“Over the past decades, many tools have been developed for epistasis detection using various statistical methods [5,6], including those based on regression [7-11], linkage disequilibrium and haplotypes [12,13], and Bayesian approaches [14,15].”
MethodHidalgo, B., Aslibekyan, S. W., Wiener, H. W., Irvin, M. R., Straka, R. J., Borecki, I. B., Tiwari, H. K., Tsai, M. Y., Hopkins, P. N., Ordovás, J. M., et al. (2015) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0000000000000162 · Cited by 3 · see citing works
Nuel, G., Lefebvre, A., & Bouaziz, O. (2017) · Computational and Mathematical Methods in Medicine · doi:10.1155/2017/9193630 · Cited by 3 · see citing works
“In that sense, it is very similar to the notion of cutset long used to compute likelihoods in complex pedigrees (see Lange et al., 2013, for a recent reference on the MENDEL package).”
BackgroundMethodInfluentialMeta-Analysis for Penalized Regression Methods with Multi-Cohort Genome-Wide Association Studies
Lu, C., O’Connor, G. T., Dupuis, J., & Kolaczyk, E. D. (2016) · Human Heredity · doi:10.1159/000447969 · Cited by 2 · see citing works
The penetrance R package for estimation of age specific risk in family-based studies
Kubista, N., Braun, D., & Parmigiani, G. (2024) · Bioinformatics Advances · doi:10.1093/bioadv/vbaf154 · Cited by 2 · see citing works
“For example, the widely used software package MENDEL by Lange et al. (2008) offers an option for penetrance estimation which can account for a full pedigree, but is difficult to use and interpret.”
Statistical Approaches for Detecting Transgenerational Genetic Effects in Humans
Sinsheimer, J. S., & Creek, M. M. (2013) · Springer eBooks · doi:10.1007/978-1-4614-8078-5_11 · Cited by 2 · see citing works
Self-citationBIS-CATTLE: A Web Server for Breed Identification using Microsatellite DNA Markers
Jaiswal, S., Dhanda, S. K., Iquebal, M. A., Arora, V., Shah, T. M., Angadi, U. B., Joshi, C. G., Raghava, G. P. S., Rai, A. K., & Kumar, V. D. (2016) · Current Research in Bioinformatics · doi:10.3844/ajbsp.2016.10.17 · Cited by 2 · see citing works
“Moreover, for breed differentiation, using SNP 50 K data can be done by limited number of software for example Mendel (Lange et al., 2013) which is again not in server mode further compounding the issue of user-friendliness.”
MethodGenome-wide QTL and eQTL analyses using Mendel
Zhou, H., Zhou, J. J., Hu, T., Sobel, E. M., & Lange, K. L. (2016) · BMC Proceedings · doi:10.1186/s12919-016-0037-6 · Cited by 1 · see citing works
“Mendel continues to mature, and geneticists are advised to give it a second look for genetic analysis [1].”
BackgroundMethodSelf-citationA Case of Maternal Half-sisters Sharing Alleles at 18 X-chromosomal Short Tandem Repeat Loci
Lü, D.-J., Liu, Q., Li, X., & Zhao, H. (2016) · Journal of Forensic Science and Medicine · doi:10.4103/2349-5014.184194 · Cited by 1 · see citing works
Efficient Bayesian methods for mixture models with genetic applications
Zuanetti, D. A. (2019) · doi:10.11606/t.104.2019.tde-20082019-083551 · Cited by 1 · see citing works
“We use software Mendel, available at http://www.genetics.ucla.edu/software/mendel, to do the variance component analysis, see Bauman et al. (2005); Lange & Sobel (2006); Lange et al. (1976, 1983, 2013) for details.”
MethodFast Genome-Wide QTL Analysis Using MendelPreprint
Zhou, H., Zhou, J. J., Hu, T., Sobel, E. M., & Lange, K. L. (2014) · arXiv (Cornell University) · doi:10.48550/arxiv.1407.8259
“give it a second look for genetic analysis (Lange et al., 2013).”
BackgroundMethodInfluentialSelf-citationPeterson, C. B., Service, S., Jasinska, A. J., Gao, F., Zelaya, I., Teshiba, T. M., Bearden, C. E., Reus, V. I., Macaya, G., López‐Jaramillo, C., et al. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/031427
“To identify genes with differential expression in the BP1 vs. non-BP1 individuals accounting for the correlation induced by relatedness, we used a variance components approach, as implemented in Mendel (Lange et al. 2013).”
MethodInfluentialEstimating relationships and relatedness from dense genome-wide data
Sun, M. (2016) · Leicester Research Archive (University of Leicester)
Identification of Thrombosis Modifier Genes Using ENU Mutagenesis in the Mouse.
Tomberg, K. (2016) · Deep Blue (University of Michigan)
- Authors
- Lange, K., Papp, J. C., Sinsheimer, J. S., Sripracha, R., Zhou, H., & Sobel, E. M.
- Affiliations
- North Carolina State University (US)
- Corresponding author
- Lange, Kenneth
- Venue
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-04-22
- Volume
- 29
- Issue
- 12
- Pages
- 1568-1570
- ISSN
- 1367-4803 (ISSN-L)
- 1367-4811
- PMC
- PMC3673222
- OpenAlex
- W2133379615
- Cited by
- 109
- References
- 28
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 3 · 2022: 6 · 2021: 8 · 2020: 8 · 2019: 9 · 2018: 9 · 2017: 11 · 2016: 16 · 2015: 17 · 2014: 13 · 2013: 5
- FWCI
- 11.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Bioinformatics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (MH059490)
- National Institute of Mental Health (MH-059490, R37MH059490, R01MH059490)
- National Human Genome Research Institute (HG006139, R01HG006139)
- National Institute of General Medical Sciences (R25GM103774, GM-053275, R01GM053275, GM103774)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- gene mapping, parametric linkage analysis, genome-wide association study, rare variants, pedigree
- MeSH terms
- Chromosome Mapping, Data Interpretation, Statistical, Humans, Genetic Linkage, Pedigree, Software, Genome-Wide Association Study
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