Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Publication Date:
2018-03-16
Publisher:
American Association for the Advancement of Science (AAAS)
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
Chemistry and Pharmacology
Geosciences
Computer Science
Medicine
Natural Sciences in General
Physics
Keywords:
Genetics
Published by:
http://www.aaas.org/
_version_ 1836398849347813377
autor Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
beschreibung Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
citation_standardnr 6209063
datenlieferant ipn_articles
feed_id 25
feed_publisher American Association for the Advancement of Science (AAAS)
feed_publisher_url http://www.aaas.org/
insertion_date 2018-03-16
journaleissn 1095-9203
journalissn 0036-8075
publikationsjahr_anzeige 2018
publikationsjahr_facette 2018
publikationsjahr_intervall 7984:2015-2019
publikationsjahr_sort 2018
publisher American Association for the Advancement of Science (AAAS)
quelle Science
relation http://science.sciencemag.org/cgi/content/short/359/6381/1233?rss=1
schlagwort Genetics
search_space articles
shingle_author_1 Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
shingle_author_2 Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
shingle_author_3 Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
shingle_author_4 Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
shingle_catch_all_1 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetics
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
American Association for the Advancement of Science (AAAS)
0036-8075
00368075
1095-9203
10959203
shingle_catch_all_2 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetics
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
American Association for the Advancement of Science (AAAS)
0036-8075
00368075
1095-9203
10959203
shingle_catch_all_3 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetics
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
American Association for the Advancement of Science (AAAS)
0036-8075
00368075
1095-9203
10959203
shingle_catch_all_4 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetics
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
American Association for the Advancement of Science (AAAS)
0036-8075
00368075
1095-9203
10959203
shingle_title_1 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
shingle_title_2 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
shingle_title_3 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
shingle_title_4 Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
timestamp 2025-06-30T23:33:37.024Z
titel Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
titel_suche Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
topic W
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SQ-SU
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TA-TD
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uid ipn_articles_6209063