diff --git a/tests/gentropy/data_samples/gwas_catalog_ancestries_sample_v1.0.3-r2022-11-29.tsv b/tests/gentropy/data_samples/gwas_catalog_ancestries_sample_v1.0.3-r2022-11-29.tsv index 92d87d92b..699e316fa 100644 --- a/tests/gentropy/data_samples/gwas_catalog_ancestries_sample_v1.0.3-r2022-11-29.tsv +++ b/tests/gentropy/data_samples/gwas_catalog_ancestries_sample_v1.0.3-r2022-11-29.tsv @@ -1,4 +1,4 @@ -STUDY ACCESSION PUBMED ID FIRST AUTHOR DATE INITIAL SAMPLE DESCRIPTION REPLICATION SAMPLE DESCRIPTION STAGE NUMBER OF INDIVIDUALS BROAD ANCESTRAL CATEGORY COUNTRY OF ORIGIN COUNTRY OF RECRUITMENT ADDITIONAL ANCESTRY DESCRIPTION ANCESTRY DESCRIPTOR FOUNDER/GENETICALLY ISOLATED POPULATION NUMBER OF CASES NUMBER OF CONTROLS SAMPLE DESCRIPTION COHORT(S) COHORT-SPECIFIC REFERENCE +STUDY ACCESSION PUBMED ID FIRST AUTHOR DATE INITIAL SAMPLE DESCRIPTION REPLICATION SAMPLE DESCRIPTION STAGE NUMBER OF INDIVIDUALS BROAD ANCESTRAL CATEGORY COUNTRY OF ORIGIN COUNTRY OF RECRUITMENT ADDITIONAL ANCESTRY DESCRIPTION ANCESTRY DESCRIPTOR FOUNDER/GENETICALLY ISOLATED POPULATION NUMBER OF CASES NUMBER OF CONTROLS SAMPLE DESCRIPTION GCST008644 26546613 Gutierrez-Achury J 2016-01-01 371 South Asian ancestry celiac disease cases, 3,138 European ancestry celiac disease cases, 4,418 European ancestry rheumatoid arthritis cases, 509 South Asian ancestry celiac disease controls, 2,473 European ancestry celiac disease controls, 3,300 European ancestry rheumatoid arthritis controls, 8,872 celiac disease cases, 9,401 rheumatoid arthritis cases, 4,845 celiac disease controls, 9,627 rheumatoid arthritis controls NA initial 32475 NR NR U.S., Netherlands, U.K. GCST008644 26546613 Gutierrez-Achury J 2016-01-01 371 South Asian ancestry celiac disease cases, 3,138 European ancestry celiac disease cases, 4,418 European ancestry rheumatoid arthritis cases, 509 South Asian ancestry celiac disease controls, 2,473 European ancestry celiac disease controls, 3,300 European ancestry rheumatoid arthritis controls, 8,872 celiac disease cases, 9,401 rheumatoid arthritis cases, 4,845 celiac disease controls, 9,627 rheumatoid arthritis controls NA initial 13329 European NR Sweden, Poland, Italy, Spain GCST008644 26546613 Gutierrez-Achury J 2016-01-01 371 South Asian ancestry celiac disease cases, 3,138 European ancestry celiac disease cases, 4,418 European ancestry rheumatoid arthritis cases, 509 South Asian ancestry celiac disease controls, 2,473 European ancestry celiac disease controls, 3,300 European ancestry rheumatoid arthritis controls, 8,872 celiac disease cases, 9,401 rheumatoid arthritis cases, 4,845 celiac disease controls, 9,627 rheumatoid arthritis controls NA initial 880 South Asian NR India diff --git a/tests/gentropy/data_samples/gwas_catalog_studies_sample-r2022-11-29.tsv b/tests/gentropy/data_samples/gwas_catalog_studies_sample-r2022-11-29.tsv index 7db8f5302..b2718cea3 100644 --- a/tests/gentropy/data_samples/gwas_catalog_studies_sample-r2022-11-29.tsv +++ b/tests/gentropy/data_samples/gwas_catalog_studies_sample-r2022-11-29.tsv @@ -1,20 +1,20 @@ -DATE ADDED TO CATALOG PUBMED ID FIRST AUTHOR DATE JOURNAL LINK STUDY DISEASE/TRAIT INITIAL SAMPLE SIZE REPLICATION SAMPLE SIZE PLATFORM [SNPS PASSING QC] ASSOCIATION COUNT MAPPED_TRAIT MAPPED_TRAIT_URI STUDY ACCESSION GENOTYPING TECHNOLOGY SUMMARY STATS LOCATION SUBMISSION DATE STATISTICAL MODEL BACKGROUND TRAIT MAPPED BACKGROUND TRAIT MAPPED BACKGROUND TRAIT URI -2019-09-11 26546613 Gutierrez-Achury J 2016-01-01 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/26546613 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. Celiac disease and Rheumatoid arthritis 371 South Asian ancestry celiac disease cases, 3,138 European ancestry celiac disease cases, 4,418 European ancestry rheumatoid arthritis cases, 509 South Asian ancestry celiac disease controls, 2,473 European ancestry celiac disease controls, 3,300 European ancestry rheumatoid arthritis controls, 8,872 celiac disease cases, 9,401 rheumatoid arthritis cases, 4,845 celiac disease controls, 9,627 rheumatoid arthritis controls NA Illumina [109572] 24 rheumatoid arthritis, celiac disease http://www.ebi.ac.uk/efo/EFO_0000685, http://www.ebi.ac.uk/efo/EFO_0001060 GCST008644 Targeted genotyping array [Immunochip] -2017-05-12 27911795 Schumann G 2016-11-28 Proc Natl Acad Sci U S A www.ncbi.nlm.nih.gov/pubmed/27911795 KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference. Alcohol consumption up to 70,460 European ancestry drinker individuals up to 35,438 European ancestry drinker individuals Affymetrix, Illumina, Perlegen [at least 316407] (imputed) 3 alcohol consumption measurement http://www.ebi.ac.uk/efo/EFO_0007878 GCST004026 Genome-wide genotyping array -2017-05-12 27911795 Schumann G 2016-11-28 Proc Natl Acad Sci U S A www.ncbi.nlm.nih.gov/pubmed/27911795 KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference. Alcohol consumption (heavy vs. light/non-drinkers) up to 74,711 European ancestry heavy and light/non-drinker individuals up to 31,021 European ancestry heavy and light/non-drinker individuals Affymetrix, Illumina, Perlegen [at least 316407] (imputed) 2 alcohol consumption measurement http://www.ebi.ac.uk/efo/EFO_0007878 GCST004027 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of organochlorine pesticides 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 2 gestational serum measurement, organochlorine pesticide measurement http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007960 GCST004281 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PCBs (fetal genetic effect) 764 fetuses NA Affymetrix [622716] 11 polychlorinated biphenyls measurement, gestational serum measurement, fetal genotype effect measurement http://www.ebi.ac.uk/efo/EFO_0007042, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959 GCST004284 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PBDEs 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 9 polybrominated biphenyl measurement, gestational serum measurement, polybrominated diphenyl ether measurement http://www.ebi.ac.uk/efo/EFO_0007961, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007962 GCST004285 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PBDEs (fetal genetic effect) 764 fetuses NA Affymetrix [629686] 11 polybrominated biphenyl measurement, gestational serum measurement, fetal genotype effect measurement, polybrominated diphenyl ether measurement http://www.ebi.ac.uk/efo/EFO_0007961, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959, http://www.ebi.ac.uk/efo/EFO_0007962 GCST004286 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of organochlorine pesticides (fetal genetic effect) 764 fetuses NA Affymetrix [629686] 0 gestational serum measurement, fetal genotype effect measurement, organochlorine pesticide measurement http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959, http://www.ebi.ac.uk/efo/EFO_0007960 GCST004282 Genome-wide genotyping array -2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PCBs 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 25 polychlorinated biphenyls measurement, gestational serum measurement http://www.ebi.ac.uk/efo/EFO_0007042, http://www.ebi.ac.uk/efo/EFO_0007964 GCST004283 Genome-wide genotyping array -2016-09-12 26325155 Brehm JM 2015-09-01 Am J Respir Crit Care Med www.ncbi.nlm.nih.gov/pubmed/26325155 A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. Post-bronchodilator lung function in asthma (FEV1) 447 Puerto Rican ancestry cases 568 European, black or Hispanic cases, 2,414 Hispanic cases Illumina [NR] 0 pulmonary function measurement, forced expiratory volume, response to bronchodilator http://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004314, http://purl.obolibrary.org/obo/GO_0097366 GCST003110 Genome-wide genotyping array asthma http://purl.obolibrary.org/obo/MONDO_0004979 -2016-09-12 26325155 Brehm JM 2015-09-01 Am J Respir Crit Care Med www.ncbi.nlm.nih.gov/pubmed/26325155 A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. Post-bronchodilator lung function in asthma (FEV1/FVC) 447 Puerto Rican ancestry cases 568 European, black or Hispanic cases, 2,414 Hispanic cases Illumina [NR] 0 pulmonary function measurement, response to bronchodilator, FEV/FEC ratio http://www.ebi.ac.uk/efo/EFO_0003892, http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713 GCST003107 Genome-wide genotyping array asthma http://purl.obolibrary.org/obo/MONDO_0004979 -2016-07-27 26237429 Aminkeng F 2015-08-03 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26237429 A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. Anthracycline-induced cardiotoxicity in childhood cancer 32 European ancestry cases with cardiotoxicity, 248 European ancestry cases without cardiotoxicity 22 European ancestry cases with cardiotoxicity, 74 European ancestry cases without cardiotoxicity, 2 African cases with cardiotoxicity, 9 African cases without cardiotoxicity, 5 Hispanic cases with cardiotoxicity, 18 Hispanic cases without cardiotoxicity, 8 East Asian cases with cardiotoxicity, 23 East Asian cases without cardiotoxicity, 4 Aboriginal Canadian cases with cardiotoxicity, 11 Aboriginal Canadian cases without cardiotoxicity Illumina [657694] 2 cardiotoxicity, response to anthracycline-based chemotherapy http://www.ebi.ac.uk/efo/EFO_1001482, http://www.ebi.ac.uk/efo/EFO_0005257 GCST003062 Genome-wide genotyping array childhood cancer http://www.ebi.ac.uk/efo/EFO_1000654 -2017-02-25 27387956 Murk W 2016-07-07 BMC Genet www.ncbi.nlm.nih.gov/pubmed/27387956 Genome-wide search identifies a gene-gene interaction between 20p13 and 2q14 in asthma. Asthma (SNP x SNP interaction) 802 European ancestry cases, 823 European ancestry controls 754 European ancestry cases, 57 European and unknown ancestry cases, 2,573 cases, 880 European ancestry controls, 68 European and unknown ancestry controls, 2,145 controls Illumina [301547] 0 asthma http://purl.obolibrary.org/obo/MONDO_0004979 GCST003682 Genome-wide genotyping array -2016-12-09 27008869 Chen MM 2016-03-23 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27008869 GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. Endometrial cancer 4,907 European ancestry cases, 11,945 European ancestry controls NA Illumina [9486271] (imputed) 4 endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 GCST003436 Genome-wide genotyping array -2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 4 specific language impairment http://www.ebi.ac.uk/efo/EFO_1001510 GCST003396 Genome-wide genotyping array -2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder (linguistic errors) 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 9 linguistic error measurement, specific language impairment http://www.ebi.ac.uk/efo/EFO_0007798, http://www.ebi.ac.uk/efo/EFO_1001510 GCST003397 Genome-wide genotyping array -2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder (syntactic complexity) 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 3 syntactic complexity measurement, specific language impairment http://www.ebi.ac.uk/efo/EFO_0007799, http://www.ebi.ac.uk/efo/EFO_1001510 GCST003398 Genome-wide genotyping array -2016-12-13 27005419 Borne Y 2016-03-22 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27005419 Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers. Erythrocyte cadmium concentration 2,704 ever-smoker individuals, 1,728 never-smoker individuals NA Illumina [658884] 5 erythrocyte cadmium measurement http://www.ebi.ac.uk/efo/EFO_0007807 GCST003449 Genome-wide genotyping array -2016-12-13 27005419 Borne Y 2016-03-22 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27005419 Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers. Erythrocyte cadmium concentration in never smokers 1,728 individuals NA Illumina [658884] 7 erythrocyte cadmium measurement http://www.ebi.ac.uk/efo/EFO_0007807 GCST003448 Genome-wide genotyping array +DATE ADDED TO CATALOG PUBMED ID FIRST AUTHOR DATE JOURNAL LINK STUDY DISEASE/TRAIT INITIAL SAMPLE SIZE REPLICATION SAMPLE SIZE PLATFORM [SNPS PASSING QC] ASSOCIATION COUNT MAPPED_TRAIT MAPPED_TRAIT_URI STUDY ACCESSION GENOTYPING TECHNOLOGY SUBMISSION DATE STATISTICAL MODEL BACKGROUND TRAIT MAPPED BACKGROUND TRAIT MAPPED BACKGROUND TRAIT URI COHORT FULL SUMMARY STATISTICS SUMMARY STATS LOCATION +2019-09-11 26546613 Gutierrez-Achury J 2016-01-01 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/26546613 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. Celiac disease and Rheumatoid arthritis 371 South Asian ancestry celiac disease cases, 3,138 European ancestry celiac disease cases, 4,418 European ancestry rheumatoid arthritis cases, 509 South Asian ancestry celiac disease controls, 2,473 European ancestry celiac disease controls, 3,300 European ancestry rheumatoid arthritis controls, 8,872 celiac disease cases, 9,401 rheumatoid arthritis cases, 4,845 celiac disease controls, 9,627 rheumatoid arthritis controls NA Illumina [109572] 24 rheumatoid arthritis, celiac disease http://www.ebi.ac.uk/efo/EFO_0000685, http://www.ebi.ac.uk/efo/EFO_0001060 GCST008644 Targeted genotyping array [Immunochip] no NA +2017-05-12 27911795 Schumann G 2016-11-28 Proc Natl Acad Sci U S A www.ncbi.nlm.nih.gov/pubmed/27911795 KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference. Alcohol consumption up to 70,460 European ancestry drinker individuals up to 35,438 European ancestry drinker individuals Affymetrix, Illumina, Perlegen [at least 316407] (imputed) 3 alcohol consumption measurement http://www.ebi.ac.uk/efo/EFO_0007878 GCST004026 Genome-wide genotyping array no NA +2017-05-12 27911795 Schumann G 2016-11-28 Proc Natl Acad Sci U S A www.ncbi.nlm.nih.gov/pubmed/27911795 KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference. Alcohol consumption (heavy vs. light/non-drinkers) up to 74,711 European ancestry heavy and light/non-drinker individuals up to 31,021 European ancestry heavy and light/non-drinker individuals Affymetrix, Illumina, Perlegen [at least 316407] (imputed) 2 alcohol consumption measurement http://www.ebi.ac.uk/efo/EFO_0007878 GCST004027 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of organochlorine pesticides 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 2 gestational serum measurement, organochlorine pesticide measurement http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007960 GCST004281 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PCBs (fetal genetic effect) 764 fetuses NA Affymetrix [622716] 11 polychlorinated biphenyls measurement, gestational serum measurement, fetal genotype effect measurement http://www.ebi.ac.uk/efo/EFO_0007042, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959 GCST004284 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PBDEs 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 9 polybrominated biphenyl measurement, gestational serum measurement, polybrominated diphenyl ether measurement http://www.ebi.ac.uk/efo/EFO_0007961, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007962 GCST004285 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PBDEs (fetal genetic effect) 764 fetuses NA Affymetrix [629686] 11 polybrominated biphenyl measurement, gestational serum measurement, fetal genotype effect measurement, polybrominated diphenyl ether measurement http://www.ebi.ac.uk/efo/EFO_0007961, http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959, http://www.ebi.ac.uk/efo/EFO_0007962 GCST004286 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of organochlorine pesticides (fetal genetic effect) 764 fetuses NA Affymetrix [629686] 0 gestational serum measurement, fetal genotype effect measurement, organochlorine pesticide measurement http://www.ebi.ac.uk/efo/EFO_0007964, http://www.ebi.ac.uk/efo/EFO_0007959, http://www.ebi.ac.uk/efo/EFO_0007960 GCST004282 Genome-wide genotyping array no NA +2017-07-03 28235828 Traglia M 2017-04-03 G3 (Bethesda) www.ncbi.nlm.nih.gov/pubmed/28235828 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Midgestational circulating levels of PCBs 329 Hispanic mothers, 273 European ancestry mothers, 122 Asian ancestry mothers, 23 South Asian ancestry mothers, 21 African American mothers, 22 other ancestry mothers NA Affymetrix [629686] 25 polychlorinated biphenyls measurement, gestational serum measurement http://www.ebi.ac.uk/efo/EFO_0007042, http://www.ebi.ac.uk/efo/EFO_0007964 GCST004283 Genome-wide genotyping array no NA +2016-09-12 26325155 Brehm JM 2015-09-01 Am J Respir Crit Care Med www.ncbi.nlm.nih.gov/pubmed/26325155 A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. Post-bronchodilator lung function in asthma (FEV1) 447 Puerto Rican ancestry cases 568 European, black or Hispanic cases, 2,414 Hispanic cases Illumina [NR] 0 pulmonary function measurement, forced expiratory volume, response to bronchodilator http://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004314, http://purl.obolibrary.org/obo/GO_0097366 GCST003110 Genome-wide genotyping array asthma http://purl.obolibrary.org/obo/MONDO_0004979 no NA +2016-09-12 26325155 Brehm JM 2015-09-01 Am J Respir Crit Care Med www.ncbi.nlm.nih.gov/pubmed/26325155 A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. Post-bronchodilator lung function in asthma (FEV1/FVC) 447 Puerto Rican ancestry cases 568 European, black or Hispanic cases, 2,414 Hispanic cases Illumina [NR] 0 pulmonary function measurement, response to bronchodilator, FEV/FEC ratio http://www.ebi.ac.uk/efo/EFO_0003892, http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713 GCST003107 Genome-wide genotyping array asthma http://purl.obolibrary.org/obo/MONDO_0004979 no NA +2016-07-27 26237429 Aminkeng F 2015-08-03 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26237429 A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. Anthracycline-induced cardiotoxicity in childhood cancer 32 European ancestry cases with cardiotoxicity, 248 European ancestry cases without cardiotoxicity 22 European ancestry cases with cardiotoxicity, 74 European ancestry cases without cardiotoxicity, 2 African cases with cardiotoxicity, 9 African cases without cardiotoxicity, 5 Hispanic cases with cardiotoxicity, 18 Hispanic cases without cardiotoxicity, 8 East Asian cases with cardiotoxicity, 23 East Asian cases without cardiotoxicity, 4 Aboriginal Canadian cases with cardiotoxicity, 11 Aboriginal Canadian cases without cardiotoxicity Illumina [657694] 2 cardiotoxicity, response to anthracycline-based chemotherapy http://www.ebi.ac.uk/efo/EFO_1001482, http://www.ebi.ac.uk/efo/EFO_0005257 GCST003062 Genome-wide genotyping array childhood cancer http://www.ebi.ac.uk/efo/EFO_1000654 no NA +2017-02-25 27387956 Murk W 2016-07-07 BMC Genet www.ncbi.nlm.nih.gov/pubmed/27387956 Genome-wide search identifies a gene-gene interaction between 20p13 and 2q14 in asthma. Asthma (SNP x SNP interaction) 802 European ancestry cases, 823 European ancestry controls 754 European ancestry cases, 57 European and unknown ancestry cases, 2,573 cases, 880 European ancestry controls, 68 European and unknown ancestry controls, 2,145 controls Illumina [301547] 0 asthma http://purl.obolibrary.org/obo/MONDO_0004979 GCST003682 Genome-wide genotyping array no NA +2016-12-09 27008869 Chen MM 2016-03-23 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27008869 GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. Endometrial cancer 4,907 European ancestry cases, 11,945 European ancestry controls NA Illumina [9486271] (imputed) 4 endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 GCST003436 Genome-wide genotyping array no NA +2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 4 specific language impairment http://www.ebi.ac.uk/efo/EFO_1001510 GCST003396 Genome-wide genotyping array no NA +2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder (linguistic errors) 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 9 linguistic error measurement, specific language impairment http://www.ebi.ac.uk/efo/EFO_0007798, http://www.ebi.ac.uk/efo/EFO_1001510 GCST003397 Genome-wide genotyping array no NA +2016-12-01 27016271 Kornilov SA 2016-03-25 Pediatrics www.ncbi.nlm.nih.gov/pubmed/27016271 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Developmental language disorder (syntactic complexity) 149 isolated population cases, 210 isolated population controls NA Illumina [223580] 3 syntactic complexity measurement, specific language impairment http://www.ebi.ac.uk/efo/EFO_0007799, http://www.ebi.ac.uk/efo/EFO_1001510 GCST003398 Genome-wide genotyping array no NA +2016-12-13 27005419 Borne Y 2016-03-22 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27005419 Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers. Erythrocyte cadmium concentration 2,704 ever-smoker individuals, 1,728 never-smoker individuals NA Illumina [658884] 5 erythrocyte cadmium measurement http://www.ebi.ac.uk/efo/EFO_0007807 GCST003449 Genome-wide genotyping array no NA +2016-12-13 27005419 Borne Y 2016-03-22 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/27005419 Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers. Erythrocyte cadmium concentration in never smokers 1,728 individuals NA Illumina [658884] 7 erythrocyte cadmium measurement http://www.ebi.ac.uk/efo/EFO_0007807 GCST003448 Genome-wide genotyping array no NA