Global prevalence of platelet-type von Willebrand disease

Authors: Seidizadeh, Omid ¹, Cairo, Andrea ², Othman, Maha ³, Peyvandi, Flora ^{1, 2, ∗}

Source: In Research and Practice in Thrombosis and Haemostasis January 2025 9(1)

Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries

Authors: Hotakainen, Ronja ¹, Järvinen, Timo ¹, Kettunen, Kaisa ¹, Anttonen, Anna-Kaisa ^{1, 2, 3}, Jakkula, Eveliina ^{2, 3, ∗}

Source: In Genetics in Medicine January 2025 27(1)

The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia

Authors: Shanghua Fan, Ting Zhao, Liu Sun

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

Subject Terms: Iron-refractory iron deficiency anaemia (IRIDA), Carrier frequency, Genetic prevalence, Genome aggregation database (gnomAD), Transmembrane serine protease 6 (TMPRSS6), Rare diseases, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0a070be20f38437996af159b2acc0a54

Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data

Authors: Natalia Forgacova, Zuzana Holesova, Rastislav Hekel, Tatiana Sedlackova, Zuzana Pos, Lucia Krivosikova, Pavol Janega, Kristina Mikus Kuracinova, Pavel Babal, Peter Radvak, Jan Radvanszky, Juraj Gazdarica, Jaroslav Budis, Tomas Szemes

Source: BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)

Subject Terms: SARS-CoV-2, COVID-19, Whole-exome sequencing, Genetic association, Polymorphisms, Gnomad, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/57f4b640e0fc4f3a86fc6b28c57dc86e

Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population

Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: alpha-mannosidosis, MAN2B1, carrier frequency, gnomAD, East Asian, Korean, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1297543/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/b7261236c02b4f59b43211aa1bb55482

Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis

Authors: Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

Subject Terms: RPE65-associated IRD, RPE65, gnomAD, KRGDB, Carrier frequency, East Asian, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/aeea2561a700400e948a75439292538a

Prevalence estimation of ATTRv in China based on genetic databases

Authors: Zheng Yongsheng, Sun Chong, Liu Bingyou, Hu Jianian, Chen Haofeng, Zhao Chongbo, Victor Wei Zhang, Lin Jie

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: amyloid transthyretin (ATTR), ChinaMap, GnomAD, prevalence, genetic database, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1126836/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/5c7daaea56f14802b7afc091cdcf02e9

Association of OPRM1 with addiction: a review on drug, alcohol and smoking addiction in worldwide population

Authors: Vanlal Hriatpuii, Hoikhe Priscilla Sema, Chenkual Vankhuma, Mahalaxmi Iyer, Mohana Devi Subramaniam, Krothapalli R. S. Sambasiva Rao, Balachandar Vellingiri, Nachimuthu Senthil Kumar

Source: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-16 (2022)

Subject Terms: OPRM1 gene, Addiction, Gnomad-exomes database, Smoking, Drug, Alcohol, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/d851ed90164c4d678aec9ccc4253b001

Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays

Authors: Maria Natalia Rojas Velazquez, Søren Therkelsen, Amit V. Pandey

Source: Biomolecules, Vol 13, Iss 12, p 1728 (2023)

Subject Terms: cytochrome P450 oxidoreductase, POR, gnomAD, CAH, drug metabolism, steroid hormones, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/13/12/1728; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/d858fead6721452aacf50dd7e6ad4754

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis

Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: familial hemophagocytic lymphohistiocytosis, gnomAD, carrier frequency, East Asian, Korean, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.975665/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/9a750a0cb3e44d99a1f7e8655af63503

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)

Subject Terms: Smith–Lemli–Opitz syndrome, DHCR7, gnomAD, Carrier frequency, East asian, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/20655ed2eafb49bfb7ea62669781d734

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Authors: Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

Subject Terms: Mucopolysaccharidoses (MPS), Estimated prevalence, Exome aggregation consortium (ExAC), Genome aggregation database (gnomAD), In silico analysis, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01608-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1c12f9b1c4f54d9d98be953a87b012c7

Genetic diversity of ‘Very Important Pharmacogenes’ in two South-Asian populations

Authors: Neeraj Bharti, Ruma Banerjee, Archana Achalere, Sunitha Manjari Kasibhatla, Rajendra Joshi

Source: PeerJ, Vol 9, p e12294 (2021)

Subject Terms: GIH, ITU, 1000 Genomes Project, gnomAD, SNPs, Allele frequency, Medicine, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://peerj.com/articles/12294.pdf; https://peerj.com/articles/12294/; https://doaj.org/toc/2167-8359

Access URL: https://doaj.org/article/f830bd248e5d4731844d7a9f9557d854

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Authors: Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert, Vasilis Vasiliou

Source: Human Genomics, Vol 13, Iss 1, Pp 1-15 (2019)

Subject Terms: Retinoic Acid, Eye Development, gnomAD, ExAC, Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/f308f0d3cc834174ba2f7357e68fa7f9

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database

Authors: Kyung Sun Park

Source: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100734- (2021)

Subject Terms: Pompe disease, Population database, Carrier frequency, Genetic prevalence, Clinical severity, gnomAD, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000288; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/7636eb231dab4581bc891795b4a8d4c8

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Authors: Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam

Source: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100602- (2020)

Subject Terms: Allelic frequency, ATP7A, gnomAD, Hardy-Weinberg equilibrium, Menkes disease, Duchenne muscular dystrophy, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300483; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/f4f7a102b1e34c10972e8b7e6ac86360

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

Authors: Anton E. Shikov, Yury A. Barbitoff, Andrey S. Glotov, Maria M. Danilova, Ziravard N. Tonyan, Yulia A. Nasykhova, Anastasia A. Mikhailova, Olesya N. Bespalova, Roman S. Kalinin, Azizahon M. Mirzorustamova, Igor Yu Kogan, Vladislav S. Baranov, Alexander N. Chernov, Dragana M. Pavlovich, Sergey V. Azarenko, Mikhail A. Fedyakov, Victoria V. Tsay, Yuri A. Eismont, Olga V. Romanova, Dmitry N. Hobotnikov, Dmitry A. Vologzhanin, Sergei V. Mosenko, Tatiana A. Ponomareva, Yana A. Talts, Anna U. Anisenkova, Dmitrii G. Lisovets, Andrey M. Sarana, Stanislav P. Urazov, Sergey G. Scherbak, Oleg S. Glotov

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: COVID-19, ACE2, mutations, eQTL, gnomAD, whole-exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.551220/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/033c35b44e6c41b8a23ac91d88de78ad

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

Authors: Nikita Abramovs, Andrew Brass, May Tassabehji

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: Hardy-Weinberg Equilibrium, heterozygote advantage, gnomAD, association studies in genetics, recessive inheritance, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00210/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/951875b4cbce49399ab8b21f8c615366

Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

Authors: Jingwei Zeng, Greg Slodkowicz, Leo C James

Source: eLife, Vol 8 (2019)

Subject Terms: TRIM21, antibody dependent intracellular immunity, 1000 Genomes Project, gnomAD, missense mutations, host-pathogen, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/48339; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/65a9c35cc176438198232cb7754fa9fb

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD)

Authors: Che-Hong Chen, Benjamin R. Kraemer, Lucia Lee, Daria Mochly-Rosen

Source: Biomolecules, Vol 11, Iss 10, p 1423 (2021)

Subject Terms: aldehyde dehydrogenase, ALDH, aldehyde, genetic variants, gnomAD, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/11/10/1423; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/0555c14dc6454b6c8e2a842b71dee4c5