Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Fast and accurate short read alignment with Burrows-Wheeler transform

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A method and server for predicting damaging missense mutations.

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Finding the missing heritability of complex diseases

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A map of human genome variation from population-scale sequencing.

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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A haplotype map of the human genome

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A second generation human haplotype map of over 3.1 million SNPs

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Evolutionary Rate at the Molecular Level

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Robust relationship inference in genome-wide association studies

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity

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In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC

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Polygenic Indices (aka Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation

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Genome‐Wide Family‐Based Linkage Analysis of Exome Chip Variants and Cardiometabolic Risk

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Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

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CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

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Distribution of single‐nucleotide variants on protein–protein interaction sites and its relationship with minor allele frequency

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Biochemical Characterization of Eight Genetic Variants of Human DNA Polymerase κ Involved in Error-Free Bypass across Bulky N2-Guanyl DNA Adducts

Song, I., Kim, E., Kim, I.-H., Park, E., Lee, K. E., Shin, J., Guengerich, F. P., & Choi, J.-Y. (2014) · Chemical Research in Toxicology · doi:10.1021/tx500072m · Cited by 17

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

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Actionable Pharmacogenetic Variation in the Slovenian Genomic Database

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Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

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Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failure

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Accumulation of Deleterious Mutations in Landlocked Threespine Stickleback Populations

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Population genetic variation of SLC6A4 gene, associated with neurophysiological development

Hande, S. H., Krishna, S. M., Sahote, K. K., Dev, N., Erl, T. P., Ramakrishna, K., Ravidhran, R., & Das, R. (2021) · Journal of Genetics · doi:10.1007/s12041-021-01266-6 · Cited by 17

Genetic Testing in the Contemporary Diagnosis of Cardiomyopathy

Sturm, A. C. (2012) · Current Heart Failure Reports · doi:10.1007/s11897-012-0124-6 · Cited by 17

Targeted Sequencing and Meta-Analysis of Preterm Birth

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Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome

Caprini, E., Bresin, A., Cristofoletti, C., Citterich, M. H., Tocco, V., Scala, E., Monopoli, A., Benucci, R., Narducci, M. G., & Russo, G. (2018) · Cell Death and Disease · doi:10.1038/s41419-018-1212-7 · Cited by 17

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

de Carvalho, J. B., de Morais, G. L., Vieira, T. C. D. S., Rabelo, N. C., Llerena, J. C., Gonzalez, S., & de Vasconcelos, A. T. R. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01144 · Cited by 17

The Process of Modern Human Origins

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Human Genetics and Clinical Aspects of Neurodevelopmental Disorders

Lyon, G. J., & O'Rawe, J. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch13 · Cited by 16

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4Preprint

Zheng, H., Yan, X., Li, G., Lin, H., Deng, S., Zhuang, W., Yao, F., Lu, Y., Xia, X., Yuan, H., et al. (2022) · Genome Research · doi:10.1101/gr.276562.122 · Cited by 17

Applications of liquid‐based separation in conjunction with mass spectrometry to the analysis of forensic evidence

Moini, M. (2018) · Electrophoresis · doi:10.1002/elps.201700501 · Cited by 16

APOL1 renal risk variants are associated with obesity and body composition in African ancestry adults

Nadkarni, G. N., Fei, K., Galarneau, G., Gao, Y. L., Wilson, J. G., Cooper, R., Madden, E. B., Denny, J. C., Richardson, L. D., Pollak, M. R., et al. (2021) · Medicine · doi:10.1097/md.0000000000027785 · Cited by 16

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification

Tam, B., Qin, Z., Zhao, B., Wang, S. M., & Lei, C. L. (2023) · iScience · doi:10.1016/j.isci.2023.106122 · Cited by 16

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

Ohori, S., Miyauchi, A., Osaka, H., Lourenço, C. M., Arakaki, N., Sengoku, T., Ogata, K., Honjo, R. S., Kim, C. A., Mitsuhashi, S., et al. (2023) · Life Science Alliance · doi:10.26508/lsa.202302025 · Cited by 16

Inferring demographic and selective histories from population genomic data using a 2-step approach in species with coding-sparse genomes: an application to human data

Soni, V., & Jensen, J. D. (2025) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkaf019 · Cited by 16

Evolutionary Genetic Bases of Longevity and Senescence

Govindaraju, D. R. (2015) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-2404-2_1 · Cited by 16

Europeans have a higher proportion of high-frequency deleterious variants than Africans

Subramanian, S. (2015) · Human Genetics · doi:10.1007/s00439-015-1604-z · Cited by 13

Identification of genetic variants associated with susceptibility to West Nile virus neuroinvasive disease

Long, D. M., Deng, X., Singh, P., Loeb, M. B., Lauring, A. S., & Seielstad, M. T. (2016) · Genes and Immunity · doi:10.1038/gene.2016.21 · Cited by 16

The inference of sex-biased human demography from whole-genome data

Musharoff, S. A., Shringarpure, S., Bustamante, C. D., & Ramachandran, S. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008293 · Cited by 16

Adult Monozygotic Twins With Hypertrophic Cardiomyopathy and Identical Disease Expression and Clinical Course

Maron, B. J., Rowin, E. J., Arkun, K., Rastegar, H., Larson, A., Maron, M. S., & Chin, M. T. (2020) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2020.04.020 · Cited by 16

The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm

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Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

Jones, M. L., Norman, J. E., Morgan, N. V., Mundell, S. J., Lordkipanidzé, M., Lowe, G., Daly, M. E., Simpson, M. A., Drake, S., Watson, S. P., et al. (2015) · Thrombosis and Haemostasis · doi:10.1160/th14-08-0679 · Cited by 17

ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma

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Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

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Detection of Driver Modules with Rarely Mutated Genes in Cancers

Li, F., Gao, L., & Wang, B. (2018) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2018.2846262 · Cited by 16

Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons

Squires, K. E., Gerber, K. J., Tillman, M. C., Lustberg, D. J., Montañez‐Miranda, C., Zhao, M., Ramineni, S., Scharer, C. D., Saha, R. N., Shu, F., et al. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.016009 · Cited by 15

Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer’s disease microglia

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Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states

Huang, A. Y., Zhou, Z., Talukdar, M., Enyenihi, L., Miller, M. B., Chhouk, B., Rosen, I., Zheng, M., Zhou, M., Yang, A., et al. (2026) · Cell · doi:10.1016/j.cell.2026.03.040 · Cited by 15

Role of genetic testing in cardiomyopathies: Α primer for cardiologists

Vogiatzi, G., Lazaros, G. A., Oikonomou, E. K., Lazarou, E., Vavuranakis, E., & Tousoulis, D. (2022) · World Journal of Cardiology · doi:10.4330/wjc.v14.i1.29 · Cited by 18

Germline Rare Deleterious Variant Load Alters Cancer Risk, Age of Onset and Tumor Characteristics

Selvan, M. E., Onel, K., Gnjatic, S., Klein, R. J., & Gumus, Z. H. (2022) · npj Precision Oncology · doi:10.1038/s41698-023-00354-3 · Cited by 15

FCMSTrans: Accurate Prediction of Disease-Associated nsSNPs by Utilizing Multiscale Convolution and Deep Feature Combination within a Transformer Framework

Zhang, M., Gong, C., Ge, F., & Yu, D. (2024) · Journal of Chemical Information and Modeling · doi:10.1021/acs.jcim.3c02025 · Cited by 15

A quantitative genetic model of background selection in humans

Buffalo, V., & Kern, A. D. (2024) · PLoS Genetics · doi:10.1371/journal.pgen.1011144 · Cited by 20

One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies

Yuan, S., Johnston, H. R., Zhang, G., Li, Y., Hu, Y., & Qin, Z. S. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004448 · Cited by 15

Common and Rare Variant Association Study for Plasma Lipids and Coronary Artery Disease

Tada, H., Kawashiri, M., Konno, T., Yamagishi, M., & Hayashi, K. (2015) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.31393 · Cited by 15

Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions

Yu, F., Lü, J., Liu, X., Gazave, É., Chang, D., Raj, S. M., Hunter-Zinck, H., Blekhman, R., Arbiza, L., Hout, C. V. V., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0121644 · Cited by 15

Prioritizing genes for X-linked diseases using population exome data

Ge, X., Kwok, P., & Shieh, J. T. C. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu473 · Cited by 15

MyoR Modulates Cardiac Conduction by Repressing Gata4

Harris, J. P., Bhakta, M., Bezprozvannaya, S., Wang, L., Lubczyk, C., Olson, E. N., & Munshi, N. V. (2014) · Molecular and Cellular Biology · doi:10.1128/mcb.00860-14 · Cited by 15

Presence of Epilepsy-Associated Variants in Large Exome Databases

Cherepanova, N. S., Leslie, E. J., Ferguson, P. J., Bamshad, M. J., & Bassuk, A. G. (2013) · Journal of Neurogenetics · doi:10.3109/01677063.2013.772176 · Cited by 15

Sequencing of SCN5A Identifies Rare and Common Variants Associated With Cardiac Conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

Magnani, J. W., Brody, J. A., Prins, B. P., Arking, D. E., Lin, H., Yin, X., Liu, C., Morrison, A. C., Zhang, F., Spector, T. D., et al. (2014) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000098 · Cited by 15

Rare variants analysis using penalization methods for whole genome sequence data

Yazdani, A., Yazdani, A., & Boerwinkle, E. (2015) · BMC Bioinformatics · doi:10.1186/s12859-015-0825-4 · Cited by 14

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Costain, G., Walker, S., Argiropoulos, B., Baribeau, D. A., Bassett, A. S., Boot, E., Devriendt, K., Kellam, B., Marshall, C. R., Prasad, A., et al. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9263-3 · Cited by 19

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants

Kozek, K. A., Wada, Y., Sala, L., Denjoy, I., Egly, C. L., O’Neill, M. J., Aiba, T., Shimizu, W., Makita, N., Ishikawa, T., et al. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.120.003289 · Cited by 15

VCGDB: a dynamic genome database of the Chinese population

Ling, Y., Jin, Z., Su, M., Zhong, J., Zhao, Y., Yu, J. M., Wu, J., & Xiao, J. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-265 · Cited by 15

Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy

Hu, T., Chen, Y., Ou, R., Wei, Q., Cao, B., Zhao, B., Wu, Y., Song, W., Chen, X., & Shang, H. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.03.028 · Cited by 15

The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes

Flannick, J. A. (2019) · Current Diabetes Reports · doi:10.1007/s11892-019-1142-5 · Cited by 16

Two Novel FAM20C Variants in a Family with Raine Syndrome

Hernández‐Zavala, A., Cortés-Camacho, F., Lara, I. P., Godínez-Aguilar, R., Espinosa-García, A. M., Duran, J. P., Villanueva-Ocampo, P., Ugarte-Briones, C., Serrano-Bello, C. A., Sánchez-Santiago, P. J., et al. (2020) · Genes · doi:10.3390/genes11020222 · Cited by 15

Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing

Ezewudo, M. N., & Zwick, M. E. (2013) · Current Psychiatry Reports · doi:10.1007/s11920-013-0349-4 · Cited by 16

A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans

Koch, E. M., & Novembre, J. (2017) · G3 Genes Genomes Genetics · doi:10.1534/g3.117.039651 · Cited by 13

Efficient Detection and Characterization of Targets of Natural Selection Using Transfer Learning

Arnab, S. P., dos Santos, A. L. C., Fumagalli, M., & DeGiorgio, M. (2025) · Molecular Biology and Evolution · doi:10.1093/molbev/msaf094 · Cited by 14

The utility of ancient human DNA for improving allele age estimates, with implications for demographic models and tests of natural selection

Sams, A. J., Hawks, J. D., & Keinan, A. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2014.10.009 · Cited by 14

Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy

Pandey, P., & Alexov, E. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25041963 · Cited by 15

Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era

Sampson, M. G., & Pollak, M. R. (2015) · Seminars in Nephrology · doi:10.1016/j.semnephrol.2015.04.002 · Cited by 14

Genetic Profiling for Risk Reduction in Human Cardiovascular Disease

Puckelwartz, M. J., & McNally, E. M. (2014) · Genes · doi:10.3390/genes5010214 · Cited by 14

Population Genetic Simulations of Complex Phenotypes with Implications for Rare Variant Association Tests

Uricchio, L. H., Torres, R., Witte, J. S., & Hernandez, R. D. (2014) · Genetic Epidemiology · doi:10.1002/gepi.21866 · Cited by 14

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

Pham, P. H., Shipman, W. J., Erikson, G. A., Schork, N. J., & Torkamani, A. (2015) · PLoS ONE · doi:10.1371/journal.pone.0116815 · Cited by 14

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

Chen, R., Wei, Q., Zhan, X., Zhong, X. Y., Sutcliffe, J. S., Cox, N. J., Cook, E. H., Li, C., Chen, W., & Li, B. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btu860 · Cited by 14

USING BIOBIN TO EXPLORE RARE VARIANT POPULATION STRATIFICATION

Moore, C., Wallace, J. R., Frase, A., Pendergrass, S. A., & Ritchie, M. D. (2012) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789814447973_0033 · Cited by 14

Technology – Considerations for the NICU of the Future

Rhine, W. D. (2016) · Newborn and Infant Nursing Reviews · doi:10.1053/j.nainr.2016.09.005 · Cited by 14

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders

Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., et al. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104200 · Cited by 14

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H. S., Grønskov, K., & Tümer, Z. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0179-9 · Cited by 14

Gallstone disease in Swedish twins is associated with the Gilbert variant of UGT 1A1

Marschall, H., Krawczyk, M. J., Grünhage, F., Katsika, D., Einarsson, C., & Lammert, F. (2013) · Liver International · doi:10.1111/liv.12141 · Cited by 14

Mitochondrial genomes and exceptional longevity in a Chinese population: the Rugao longevity study

Li, L., Zheng, H., Liu, Z., Qin, Z., Chen, F., Qian, D., Xu, J., Li, J., & Wang, X. (2015) · AGE · doi:10.1007/s11357-015-9750-8 · Cited by 14

Global and disease-associated genetic variation in the human Fanconi anemia gene family

Rogers, K. J., Fu, W. Q., Akey, J. M., & Monnat, R. J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu400 · Cited by 15

Disrupted lymphocyte homeostasis in hepatitis‐associated acquired aplastic anemia is associated with short telomeres

Babushok, D. V., Grignon, A., Li, Y., Atienza, J., Xie, H. M., Lam, H., Hartung, H. D., Bessler, M., & Olson, T. S. (2015) · American Journal of Hematology · doi:10.1002/ajh.24256 · Cited by 14

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

Cai, B., Li, B., Kiga, N., Thusberg, J., Bergquist, T. R., Chen, Y., Niknafs, N., Carter, H. K., Tokheim, C. J., Guthrie, V. B., et al. (2017) · Human Mutation · doi:10.1002/humu.23265 · Cited by 14

EIF2AK3 variants in Dutch patients with Alzheimer's disease

Wong, T. H., van der Lee, S. J., van Rooij, J., Meeter, L. H. H., Frick, P., Melhem, S., Seelaar, H., Ikram, M. A., Rozemüller, A. J. M., Holstege, H. H., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.08.016 · Cited by 15

Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations

Whiffin, N., Ware, J. S., & O’Donnell‐Luria, A. (2019) · JAMA · doi:10.1001/jama.2019.12891 · Cited by 14

Predicting Discovery Rates of Genomic Features

Gravel, S. (2014) · Genetics · doi:10.1534/genetics.114.162149 · Cited by 14

Ultra-rare variants drive substantial cis -heritability of human gene expressionPreprint

Hernandez, R. D., Uricchio, L. H., Hartman, K., Ye, C., Dahl, A., & Zaitlen, N. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/219238 · Cited by 14

Recent ultra-rare inherited mutations identify novel autism candidate risk genesPreprint

Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.10.932327 · Cited by 14

Multidisciplinary approach to genomics research in Africa: the AfriCRAN model

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A Variational Bayes Discrete Mixture Test for Rare Variant Association

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