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Showing 25 to 36 of 108 entries
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Set-theory based benchmarking of three different variant callers for targeted sequencing.

BMC bioinformatics

Molina-Mora JA, Solano-Vargas M.
PMID: 33413082
BMC Bioinformatics. 2021 Jan 07;22(1):20. doi: 10.1186/s12859-020-03926-3.

BACKGROUND: Next generation sequencing (NGS) technologies have improved the study of hereditary diseases. Since the evaluation of bioinformatics pipelines is not straightforward, NGS demands effective strategies to analyze data that is of paramount relevance for decision making under a...

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Molina-Mora JA, Solano-Vargas M. Set-theory based benchmarking of three different variant callers for targeted sequencing. BMC Bioinformatics. 2021;22(1):20doi: 10.1186/s12859-020-03926-3.
Molina-Mora, J. A., & Solano-Vargas, M. (2021). Set-theory based benchmarking of three different variant callers for targeted sequencing. BMC bioinformatics, 22(1), 20. https://doi.org/10.1186/s12859-020-03926-3
Molina-Mora, Jose Arturo, and Solano-Vargas, Mariela. "Set-theory based benchmarking of three different variant callers for targeted sequencing." BMC bioinformatics vol. 22,1 (2021): 20. doi: https://doi.org/10.1186/s12859-020-03926-3
Molina-Mora JA, Solano-Vargas M. Set-theory based benchmarking of three different variant callers for targeted sequencing. BMC Bioinformatics. 2021 Jan 07;22(1):20. doi: 10.1186/s12859-020-03926-3. PMID: 33413082; PMCID: PMC7791862.
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Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci.

Clinical and translational medicine

Wang Z, Zhu Q, Liu Y, Chen S, Zhang Y, Ma Q, Chen X, Liu C, Lei H, Chen H, Wang J, Zheng S, Li Z, Xiong L, Lai W, Zhong S.
PMID: 33634981
Clin Transl Med. 2021 Feb;11(2):e290. doi: 10.1002/ctm2.290.

No abstract available.

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Wang Z, Zhu Q, Liu Y, et al. Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci. Clin Transl Med. 2021;11(2):e290doi: 10.1002/ctm2.290.
Wang, Z., Zhu, Q., Liu, Y., Chen, S., Zhang, Y., Ma, Q., Chen, X., Liu, C., Lei, H., Chen, H., Wang, J., Zheng, S., Li, Z., Xiong, L., Lai, W., & Zhong, S. (2021). Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci. Clinical and translational medicine, 11(2), e290. https://doi.org/10.1002/ctm2.290
Wang, Zixian, et al. "Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci." Clinical and translational medicine vol. 11,2 (2021): e290. doi: https://doi.org/10.1002/ctm2.290
Wang Z, Zhu Q, Liu Y, Chen S, Zhang Y, Ma Q, Chen X, Liu C, Lei H, Chen H, Wang J, Zheng S, Li Z, Xiong L, Lai W, Zhong S. Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci. Clin Transl Med. 2021 Feb;11(2):e290. doi: 10.1002/ctm2.290. PMID: 33634981; PMCID: PMC7839954.
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.

Molecular psychiatry

Bigdeli TB, Genovese G, Georgakopoulos P, Meyers JL, Peterson RE, Iyegbe CO, Medeiros H, Valderrama J, Achtyes ED, Kotov R, Stahl EA, Abbott C, Azevedo MH, Belliveau RA, Bevilacqua E, Bromet EJ, Byerley W, Carvalho CB, Chapman SB, DeLisi LE, Dumont AL, O'Dushlaine C, Evgrafov OV, Fochtmann LJ, Gage D, Kennedy JL, Kinkead B, Macedo A, Moran JL, Morley CP, Dewan MJ, Nemesh J, Perkins DO, Purcell SM, Rakofsky JJ, Scolnick EM, Sklar BM, Sklar P, Smoller JW, Sullivan PF, Macciardi F, Marder SR, Gur RC, Gur RE, Braff DL, Nicolini H, Escamilla MA, Vawter MP, Sobell JL, Malaspina D, Lehrer DS, Buckley PF, Rapaport MH, Knowles JA, Fanous AH, Pato MT, McCarroll SA, Pato CN.
PMID: 31591465
Mol Psychiatry. 2020 Oct;25(10):2455-2467. doi: 10.1038/s41380-019-0517-y. Epub 2019 Oct 07.

Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most of the currently explained liability is within common variation, suggesting...

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Bigdeli TB, Genovese G, Georgakopoulos P, et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol Psychiatry. 2019;25(10):2455-2467doi: 10.1038/s41380-019-0517-y.
Bigdeli, T. B., Genovese, G., Georgakopoulos, P., Meyers, J. L., Peterson, R. E., Iyegbe, C. O., Medeiros, H., Valderrama, J., Achtyes, E. D., Kotov, R., Stahl, E. A., Abbott, C., Azevedo, M. H., Belliveau, R. A., Bevilacqua, E., Bromet, E. J., Byerley, W., Carvalho, C. B., Chapman, S. B., DeLisi, L. E., Dumont, A. L., O'Dushlaine, C., Evgrafov, O. V., Fochtmann, L. J., Gage, D., Kennedy, J. L., Kinkead, B., Macedo, A., Moran, J. L., Morley, C. P., Dewan, M. J., Nemesh, J., Perkins, D. O., Purcell, S. M., Rakofsky, J. J., Scolnick, E. M., Sklar, B. M., Sklar, P., Smoller, J. W., Sullivan, P. F., Macciardi, F., Marder, S. R., Gur, R. C., Gur, R. E., Braff, D. L., Nicolini, H., Escamilla, M. A., Vawter, M. P., Sobell, J. L., Malaspina, D., Lehrer, D. S., Buckley, P. F., Rapaport, M. H., Knowles, J. A., Fanous, A. H., Pato, M. T., McCarroll, S. A., & Pato, C. N. (2020). Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Molecular psychiatry, 25(10), 2455-2467. https://doi.org/10.1038/s41380-019-0517-y
Bigdeli, Tim B, et al. "Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry." Molecular psychiatry vol. 25,10 (2020): 2455-2467. doi: https://doi.org/10.1038/s41380-019-0517-y
Bigdeli TB, Genovese G, Georgakopoulos P, Meyers JL, Peterson RE, Iyegbe CO, Medeiros H, Valderrama J, Achtyes ED, Kotov R, Stahl EA, Abbott C, Azevedo MH, Belliveau RA, Bevilacqua E, Bromet EJ, Byerley W, Carvalho CB, Chapman SB, DeLisi LE, Dumont AL, O'Dushlaine C, Evgrafov OV, Fochtmann LJ, Gage D, Kennedy JL, Kinkead B, Macedo A, Moran JL, Morley CP, Dewan MJ, Nemesh J, Perkins DO, Purcell SM, Rakofsky JJ, Scolnick EM, Sklar BM, Sklar P, Smoller JW, Sullivan PF, Macciardi F, Marder SR, Gur RC, Gur RE, Braff DL, Nicolini H, Escamilla MA, Vawter MP, Sobell JL, Malaspina D, Lehrer DS, Buckley PF, Rapaport MH, Knowles JA, Fanous AH, Pato MT, McCarroll SA, Pato CN. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol Psychiatry. 2020 Oct;25(10):2455-2467. doi: 10.1038/s41380-019-0517-y. Epub 2019 Oct 07. PMID: 31591465; PMCID: PMC7515843.
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Somatic variants in new candidate genes identified in focal cortical dysplasia type II.

Epilepsia

Zhang Z, Gao K, Liu Q, Zhou J, Li X, Lang N, Liu M, Wang T, Zhang J, Wang H, Dong Y, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y.
PMID: 32216069
Epilepsia. 2020 Apr;61(4):667-678. doi: 10.1111/epi.16481. Epub 2020 Mar 26.

OBJECTIVE: Focal cortical dysplasia type II (FCDII) is a malformation of cortex development commonly found in children with drug-resistant epilepsy. FCDII has been associated with somatic mutations in mammalian target of rapamycin (mTOR)-related pathway genes and an upregulation of...

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Zhang Z, Gao K, Liu Q, et al. Somatic variants in new candidate genes identified in focal cortical dysplasia type II. Epilepsia. 2020;61(4):667-678doi: 10.1111/epi.16481.
Zhang, Z., Gao, K., Liu, Q., Zhou, J., Li, X., Lang, N., Liu, M., Wang, T., Zhang, J., Wang, H., Dong, Y., Ji, T., Wang, S., Liu, X., Jiang, Y., Cai, L., & Wu, Y. (2020). Somatic variants in new candidate genes identified in focal cortical dysplasia type II. Epilepsia, 61(4), 667-678. https://doi.org/10.1111/epi.16481
Zhang, Zhongbin, et al. "Somatic variants in new candidate genes identified in focal cortical dysplasia type II." Epilepsia vol. 61,4 (2020): 667-678. doi: https://doi.org/10.1111/epi.16481
Zhang Z, Gao K, Liu Q, Zhou J, Li X, Lang N, Liu M, Wang T, Zhang J, Wang H, Dong Y, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y. Somatic variants in new candidate genes identified in focal cortical dysplasia type II. Epilepsia. 2020 Apr;61(4):667-678. doi: 10.1111/epi.16481. Epub 2020 Mar 26. PMID: 32216069.
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Effect of polymorphism on .

Artificial cells, nanomedicine, and biotechnology

Xia H, Chen Y, Meng J, Liang C.
PMID: 31359795
Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):3138-3152. doi: 10.1080/21691401.2019.1646750.

IL-1α is closely related to the development and metastasis of cancer, and its polymorphisms have been reported affecting the susceptibility of malignancy tumors, yet the conclusions are controversial. Present an overall meta-analysis was performed to reach more general findings....

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Xia H, Chen Y, Meng J, et al. Effect of polymorphism on . Artif Cells Nanomed Biotechnol. 2019;47(1):3138-3152doi: 10.1080/21691401.2019.1646750.
Xia, H., Chen, Y., Meng, J., & Liang, C. (2019). Effect of polymorphism on . Artificial cells, nanomedicine, and biotechnology, 47(1), 3138-3152. https://doi.org/10.1080/21691401.2019.1646750
Xia, Haoran, et al. "Effect of polymorphism on ." Artificial cells, nanomedicine, and biotechnology vol. 47,1 (2019): 3138-3152. doi: https://doi.org/10.1080/21691401.2019.1646750
Xia H, Chen Y, Meng J, Liang C. Effect of polymorphism on . Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):3138-3152. doi: 10.1080/21691401.2019.1646750. PMID: 31359795.
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Genetically modulated educational attainment and coronary disease risk.

European heart journal

Zeng L, Ntalla I, Kessler T, Kastrati A, Erdmann J, Danesh J, Watkins H, Samani NJ, Deloukas P, Schunkert H.
PMID: 31170283
Eur Heart J. 2019 Aug 01;40(29):2413-2420. doi: 10.1093/eurheartj/ehz328.

AIMS: Genetic disposition and lifestyle factors are understood as independent components underlying the risk of multiple diseases. In this study, we aim to investigate the interplay between genetics, educational attainment-an important denominator of lifestyle-and coronary artery disease (CAD) risk.METHODS...

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Zeng L, Ntalla I, Kessler T, et al. Genetically modulated educational attainment and coronary disease risk. Eur Heart J. 2019;40(29):2413-2420doi: 10.1093/eurheartj/ehz328.
Zeng, L., Ntalla, I., Kessler, T., Kastrati, A., Erdmann, J., Danesh, J., Watkins, H., Samani, N. J., Deloukas, P., & Schunkert, H. (2019). Genetically modulated educational attainment and coronary disease risk. European heart journal, 40(29), 2413-2420. https://doi.org/10.1093/eurheartj/ehz328
Zeng, Lingyao, et al. "Genetically modulated educational attainment and coronary disease risk." European heart journal vol. 40,29 (2019): 2413-2420. doi: https://doi.org/10.1093/eurheartj/ehz328
Zeng L, Ntalla I, Kessler T, Kastrati A, Erdmann J, Danesh J, Watkins H, Samani NJ, Deloukas P, Schunkert H. Genetically modulated educational attainment and coronary disease risk. Eur Heart J. 2019 Aug 01;40(29):2413-2420. doi: 10.1093/eurheartj/ehz328. PMID: 31170283; PMCID: PMC6669407.
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Therapeutic approaches for genetic and infectious diseases.

International reviews of immunology

Kumar H.
PMID: 31894736
Int Rev Immunol. 2020;39(1):1-2. doi: 10.1080/08830185.2019.1707479.

No abstract available.

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Kumar H. Therapeutic approaches for genetic and infectious diseases. Int Rev Immunol. 2020;39(1):1-2doi: 10.1080/08830185.2019.1707479.
Kumar, H. (2020). Therapeutic approaches for genetic and infectious diseases. International reviews of immunology, 39(1), 1-2. https://doi.org/10.1080/08830185.2019.1707479
Kumar, Himanshu. "Therapeutic approaches for genetic and infectious diseases." International reviews of immunology vol. 39,1 (2020): 1-2. doi: https://doi.org/10.1080/08830185.2019.1707479
Kumar H. Therapeutic approaches for genetic and infectious diseases. Int Rev Immunol. 2020;39(1):1-2. doi: 10.1080/08830185.2019.1707479. PMID: 31894736.
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Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific reports

Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A.
PMID: 33431980
Sci Rep. 2021 Jan 11;11(1):319. doi: 10.1038/s41598-020-79412-w.

De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs)...

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Alonso-Gonzalez A, Calaza M, Amigo J, et al. Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Sci Rep. 2021;11(1):319doi: 10.1038/s41598-020-79412-w.
Alonso-Gonzalez, A., Calaza, M., Amigo, J., González-Peñas, J., Martínez-Regueiro, R., Fernández-Prieto, M., Parellada, M., Arango, C., Rodriguez-Fontenla, C., & Carracedo, A. (2021). Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Scientific reports, 11(1), 319. https://doi.org/10.1038/s41598-020-79412-w
Alonso-Gonzalez, A, et al. "Exploring the biological role of postzygotic and germinal de novo mutations in ASD." Scientific reports vol. 11,1 (2021): 319. doi: https://doi.org/10.1038/s41598-020-79412-w
Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A. Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Sci Rep. 2021 Jan 11;11(1):319. doi: 10.1038/s41598-020-79412-w. PMID: 33431980; PMCID: PMC7801448.
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Beyond Genetics: What Causes Type 1 Diabetes.

Clinical reviews in allergy & immunology

Wang Z, Xie Z, Lu Q, Chang C, Zhou Z.
PMID: 27878451
Clin Rev Allergy Immunol. 2017 Apr;52(2):273-286. doi: 10.1007/s12016-016-8592-1.

Type 1 diabetes (T1D) is an autoimmune disease resulting from T cell-mediated β cell destruction in the pancreas of genetically susceptible individuals. Extensive familial and population genetic studies uncovered the strong linkage and association between HLA gene variants and...

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Wang Z, Xie Z, Lu Q, et al. Beyond Genetics: What Causes Type 1 Diabetes. Clin Rev Allergy Immunol. 2017;52(2):273-286doi: 10.1007/s12016-016-8592-1.
Wang, Z., Xie, Z., Lu, Q., Chang, C., & Zhou, Z. (2017). Beyond Genetics: What Causes Type 1 Diabetes. Clinical reviews in allergy & immunology, 52(2), 273-286. https://doi.org/10.1007/s12016-016-8592-1
Wang, Zhen, et al. "Beyond Genetics: What Causes Type 1 Diabetes." Clinical reviews in allergy & immunology vol. 52,2 (2017): 273-286. doi: https://doi.org/10.1007/s12016-016-8592-1
Wang Z, Xie Z, Lu Q, Chang C, Zhou Z. Beyond Genetics: What Causes Type 1 Diabetes. Clin Rev Allergy Immunol. 2017 Apr;52(2):273-286. doi: 10.1007/s12016-016-8592-1. PMID: 27878451.
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Genetic aspects of intervertebral disc degeneration.

Reviews in the neurosciences

Hanaei S, Abdollahzade S, Khoshnevisan A, Kepler CK, Rezaei N.
PMID: 25996483
Rev Neurosci. 2015;26(5):581-606. doi: 10.1515/revneuro-2014-0077.

Intervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of...

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Hanaei S, Abdollahzade S, Khoshnevisan A, et al. Genetic aspects of intervertebral disc degeneration. Rev Neurosci. 2015;26(5):581-606doi: 10.1515/revneuro-2014-0077.
Hanaei, S., Abdollahzade, S., Khoshnevisan, A., Kepler, C. K., & Rezaei, N. (2015). Genetic aspects of intervertebral disc degeneration. Reviews in the neurosciences, 26(5), 581-606. https://doi.org/10.1515/revneuro-2014-0077
Hanaei, Sara, et al. "Genetic aspects of intervertebral disc degeneration." Reviews in the neurosciences vol. 26,5 (2015): 581-606. doi: https://doi.org/10.1515/revneuro-2014-0077
Hanaei S, Abdollahzade S, Khoshnevisan A, Kepler CK, Rezaei N. Genetic aspects of intervertebral disc degeneration. Rev Neurosci. 2015;26(5):581-606. doi: 10.1515/revneuro-2014-0077. PMID: 25996483.
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Target validation: Genetic information adds supporting weight.

Nature reviews. Drug discovery

Cully M.
PMID: 26228753
Nat Rev Drug Discov. 2015 Aug;14(8):525. doi: 10.1038/nrd4692.

No abstract available.

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Cully M. Target validation: Genetic information adds supporting weight. Nat Rev Drug Discov. 2015;14(8):525doi: 10.1038/nrd4692.
Cully, M. (2015). Target validation: Genetic information adds supporting weight. Nature reviews. Drug discovery, 14(8), 525. https://doi.org/10.1038/nrd4692
Cully, Megan. "Target validation: Genetic information adds supporting weight." Nature reviews. Drug discovery vol. 14,8 (2015): 525. doi: https://doi.org/10.1038/nrd4692
Cully M. Target validation: Genetic information adds supporting weight. Nat Rev Drug Discov. 2015 Aug;14(8):525. doi: 10.1038/nrd4692. PMID: 26228753.
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Clinical uncertainty of prostate cancer genetic risk panels.

Science translational medicine

Pomerantz M, Freedman ML.
PMID: 23616119
Sci Transl Med. 2013 Apr 24;5(182):182ed6. doi: 10.1126/scitranslmed.3004696.

No abstract available.

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Pomerantz M, Freedman ML. Clinical uncertainty of prostate cancer genetic risk panels. Sci Transl Med. 2013;5(182):182ed6doi: 10.1126/scitranslmed.3004696.
Pomerantz, M., & Freedman, M. L. (2013). Clinical uncertainty of prostate cancer genetic risk panels. Science translational medicine, 5(182), 182ed6. https://doi.org/10.1126/scitranslmed.3004696
Pomerantz, Mark, and Freedman, Matthew L. "Clinical uncertainty of prostate cancer genetic risk panels." Science translational medicine vol. 5,182 (2013): 182ed6. doi: https://doi.org/10.1126/scitranslmed.3004696
Pomerantz M, Freedman ML. Clinical uncertainty of prostate cancer genetic risk panels. Sci Transl Med. 2013 Apr 24;5(182):182ed6. doi: 10.1126/scitranslmed.3004696. PMID: 23616119.
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Showing 25 to 36 of 108 entries