المؤلفون: Cui, Ya, Ye, Wenbin, Li, Jason Sheng, Li, Jingyi Jessica, Vilain, Eric, Sallam, Tamer, Li, Wei

المصدر: Cell. 187(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Neurodegenerative, Good Health and Well Being, Humans, Genome, Human, Tandem Repeat Sequences, Whole Genome Sequencing, Databases, Genetic, DNA Repeat Expansion, Genome-Wide Association Study, GWAS, TR-gnomAD, ancestries, expansion, genome aggregation, human genetics, missing heritability, rare diseases, tandem repeat, whole genome sequencing, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

URL الوصول: https://escholarship.org/uc/item/0gj3j1gn

المؤلفون: Mahmoud Amiri Roudbar, Seyed Milad Vahedi, Jin Jin, Mina Jahangiri, Hossein Lanjanian, Danial Habibi, Sajedeh Masjoudi, Parisa Riahi, Sahand Tehrani Fateh, Farideh Neshati, Asiyeh Sadat Zahedi, Maryam Moazzam-Jazi, Leila Najd-Hassan-Bonab, Seyedeh Fatemeh Mousavi, Sara Asgarian, Maryam Zarkesh, Mohammad Reza Moghaddas, Albert Tenesa, Anoshirvan Kazemnejad, Hassan Vahidnezhad, Hakon Hakonarson, Fereidoun Azizi, Mehdi Hedayati, Maryam Sadat Daneshpour, Mahdi Akbarzadeh

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Genome-wide association studies (GWAS), Heritability, Estimated risk values (ERV), Type 2 diabetes, Missing heritability, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/d1778760f30742c2868c53ce140b1d16

المؤلفون: Dora Torok, Peter Petschner, Daniel Baksa, Gabriella Juhasz

المصدر: The Journal of Headache and Pain, Vol 25, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Migraine, Genetics, Missing heritability, Disease onset, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1129-2377

URL الوصول: https://doaj.org/article/a829a36a13944876be3ed9846c20b5d4

المؤلفون: Harkness, John

المساهمون: Hubbard, Simon, Newman, William, Banka, Siddharth

مصطلحات موضوعية: ATP7A, Urorectal Septum Malformation Sequence, RCC1, Occipital Horn Syndrome, Fever-Associated Axonal Neuropathy, Urofacial Syndrome, NGS, Missing Heritability, Rare Disease, Genomics, EBF3

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.886105

المؤلفون: Michele Provenzano, Greta Borelli, Markus Pirklbauer, Gert Mayer

المصدر: Frontiers in Nephrology, Vol 4 (2024)

مصطلحات موضوعية: chronic kidney disease, prevention, missing heritability, advancing age, sodium intake, SIRI index, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneph.2024.1441190/full; https://doaj.org/toc/2813-0626

URL الوصول: https://doaj.org/article/e881f4ab5ddd4edd804b0b91337e31dc

المؤلفون: Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll

المصدر: Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)

مصطلحات موضوعية: basal cell nevus syndrome, Gorlin syndrome, whole-exome sequencing, multiplex ligation-dependent probe amplification, missing heritability, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/7/336; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/f0a534224e3742919de313dd11bcbc53

المصدر: Project MinE ALS GWAS Consortium 2024 , ' Computing linkage disequilibrium aware genome embeddings using autoencoders ' , BIOINFORMATICS , vol. 40 , no. 6 , btae326 . https://doi.org/10.1093/bioinformatics/btae326

مصطلحات موضوعية: Missing heritability, Genotyping errors, Haplotype blocks, Complex traits, Association, Common, Representations, Diseases

الاتاحة: https://research.tilburguniversity.edu/en/publications/33923bd4-5a1e-429c-94a0-e1615558ae0c
https://doi.org/10.1093/bioinformatics/btae326

المؤلفون: Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1271 (2024)

مصطلحات موضوعية: albinism, missing heritability, digenic inheritance, TPCN2 gene, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/1271; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/01eff102786e4eb6b1da578032054a00

الاتاحة: https://doi.org/10.3390/ijms25021271
https://doaj.org/article/01eff102786e4eb6b1da578032054a00

المؤلفون: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)

مصطلحات موضوعية: ABCA4, ABCA4-associated retinopathies, missing heritability, smMIPs sequencing, deep-intronic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000696; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f

المؤلفون: Lazic, Desanka, Geßner, Cornelia, Liepe, Katharina J., Lesur-Kupin, Isabelle, Mader, Malte, Blanc-Jolivet, Céline, Gömöry, Dusan, Liesebach, Mirko, Gonzalez-Martinez, Santiago C., Fladung, Matthias, Degen, Bernd, Müller, Niels Andreas

مصطلحات موضوعية: Text, ddc:570, local adaptation -- adaptive genetic variation -- genotype-environment associations -- missing heritability -- phenotypic plasticity -- genomic offset -- Fagus sylvatica

وصف الملف: 20 Seiten

Relation: Genomic variation of a keystone forest tree species reveals patterns of local adaptation and future maladaptation -- 10.1101/2023.05.11.540382; https://doi.org/10.1101/2023.05.11.540382; https://www.openagrar.de/receive/openagrar_mods_00097736; https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00060294/dn068472.pdf

الاتاحة: https://doi.org/10.1101/2023.05.11.540382
https://www.openagrar.de/receive/openagrar_mods_00097736
https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00060294/dn068472.pdf

المؤلفون: Olga S. Chumakova, Natalia M. Baulina

المصدر: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

مصطلحات موضوعية: hypertrophic cardiomyopathy, genetics, diagnosis, missing heritability, NGS, HCM-associated variants, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1236539/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/a28f177f5bdb420fa598e360e66a96d1

المؤلفون: Antónia Juliana Pais‐Costa, Eva J. P. Lievens, Stella Redón, Marta I. Sánchez, Roula Jabbour‐Zahab, Pauline Joncour, Nguyen Van Hoa, Gilbert Van Stappen, Thomas Lenormand

المصدر: Evolution Letters, Vol 6, Iss 4, Pp 284-294 (2022)

مصطلحات موضوعية: Additive genetic effect, climate change, microbiota, missing heritability, plasticity, resurrection ecology, Evolution, QH359-425

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-3744

URL الوصول: https://doaj.org/article/1d25788520234d4394dd007b65333e80

المؤلفون: Nagy, Réka

المساهمون: Vitart, Veronique, Navarro, Pau, Haley, Christopher

مصطلحات موضوعية: polymorphisms, quantitative traits loci, missing heritability

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.738835

المؤلفون: David Kainer, Alan R. Templeton, Erica T. Prates, Daniel Jacboson, Euan R.O. Allan, Sharlee Climer, Michael R. Garvin

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100150- (2023)

مصطلحات موضوعية: Genomic structural variation, missing heritability, autism spectrum disorder, Mendelian inheritance, artificial intelligence, precision medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000677; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a0dba97601ab44de9f8716863efa1c52

المؤلفون: Derpoorter, Charlotte, Van Paemel, Ruben, Vandemeulebroecke, Katrien, Vanhooren, Jolien, De Wilde, Bram, Laureys, Genevieve, Lammens, Tim

المصدر: PEDIATRIC HEMATOLOGY AND ONCOLOGY ; ISSN: 0888-0018 ; ISSN: 1521-0669

مصطلحات موضوعية: Medicine and Health Sciences, Oncology, Hematology, Pediatrics, Perinatology and Child Health, Familial, germline predisposition, missing heritability, pediatric cancer, whole genome sequencing, FAMILIAL BURKITTS-LYMPHOMA, TUMOR-SUPPRESSOR, GASTRIC-CANCER, PREDISPOSITION, FAT4, MUTATIONS, RESTRICT, ACTS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8768224; http://doi.org/10.1080/08880018.2022.2101723; https://biblio.ugent.be/publication/8768224/file/01HD6RXRCWGZVCD3DN2V7XA8EG

الاتاحة: https://biblio.ugent.be/publication/8768224
http://hdl.handle.net/1854/LU-8768224
https://doi.org/10.1080/08880018.2022.2101723
https://biblio.ugent.be/publication/8768224/file/01HD6RXRCWGZVCD3DN2V7XA8EG

المؤلفون: Kierczak, Marcin, 1981, Rafati, Nima, Höglund, Julia, Gourlé, Hadrien, Lo Faro, Valeria, Schmitz, Daniel, 1995, Ek, Weronica E., Gyllensten, Ulf, Enroth, Stefan, 1976, Ekman, Diana, Nystedt, Björn, 1978, Karlsson, Torgny, Johansson, Åsa

المصدر: Science for Life Laboratory – a national resource center for high–throughput molecular bioscience Nature Communications. 13

مصطلحات موضوعية: Rare variants, SKAT, Protein Biomarkers, Hidden heritability, Missing heritability, GWAS

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-470178
https://doi.org/10.1038/s41467-022-30208-8
https://doi.org/10.21203/rs.3.rs-625433/v1
https://uu.diva-portal.org/smash/get/diva2:1646060/FULLTEXT02.pdf

المؤلفون: Mariana Saint Just Ribeiro, Pulak Tripathi, Bahram Namjou, John B. Harley, Iouri Chepelev

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: gene regulation, enhancer, enhancer-like promoter, genetic interaction, missing heritability, BLK, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1008582/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/dd041971c2394d2ab5f83d0c3eb48caa

المؤلفون: Xi Long, Hong Xue

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-23 (2021)

مصطلحات موضوعية: Frequency independent, Genetic diversity, Missing heritability, Retrotransposon, Recombination-selection co-saturation, Replication timing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/8e9612b3e0604b9ab316372262781b09

المؤلفون: Qinglian Zhai, Maaike van der Lee, Teun van Gelder, Jesse J. Swen

المصدر: Frontiers in Pharmacology, Vol 13 (2022)

مصطلحات موضوعية: CYP3A locus, CYP3A4, CYP3A5, genetic variants, enzyme activity, missing heritability, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.912618/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/095cfae0737147a89d788acdd098a335

المؤلفون: Blanco-Gómez, Adrián, Castillo-Lluva, Sonia, Del Mar Sáez-Freire, María, Hontecillas-Prieto, Lourdes, Mao, Jian Hua, Castellanos-Martín, Andrés, Pérez-Losada, Jesus

المصدر: BioEssays. 38(7)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Generic health relevance, Animals, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Variation, Genetics, Medical, Humans, Models, Genetic, Phenotype, complex diseases, heritability, intermediate phenotype or endophenotype, missing heritability, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental Biology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/10j0m1gv
https://escholarship.org/content/qt10j0m1gv/qt10j0m1gv.pdf