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NATURE COMMUNICATIONS, ISSN 2041-1723, 06/2019, Volume 10, Issue 1, pp. 2884 - 7
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen... 
RP1 | ALLELES | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RISK | MUTATIONS | IDENTIFICATION | RETINITIS-PIGMENTOSA | ASSOCIATION | Blindness | Alleles | Retinal degeneration | Insertion | Retina | Heredity | Mutation
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 1 - 4
Dandy-Walker malformation (DWM) is a rare congenital malformation defined by hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle.... 
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 06/2019, Volume 10, Issue 1, pp. 2773 - 13
Dental caries and periodontitis account for a vast burden of morbidity and healthcare spending, yet their genetic basis remains largely uncharacterized. Here,... 
POPULATION | GENETIC-BASIS | DISEASES | GWAS | ASSOCIATION METAANALYSIS | MULTIDISCIPLINARY SCIENCES | MENDELIAN RANDOMIZATION | LD SCORE REGRESSION | EXPRESSION | HERITABILITY | INSIGHTS | Health care | Dental caries | Dental disorders | Periodontitis | Downstream effects | Fluoridation | Genomes | Heritability | Metabolism | Morbidity | Smoking | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1784 - 10
In the design of whole-genome sequencing (WGS) studies, sequencing depth is a crucial parameter to define variant calling accuracy and study cost, with no... 
RISK | PROJECT | GENETIC INHERITANCE | MULTIDISCIPLINARY SCIENCES | Accuracy | Genotyping | Alleles | Software | Genomes | Histocompatibility antigen HLA | Genotypes | Computer programs
Journal Article
by Morris, Andrew P and Morris, Andrew P and Le, Thu H and Le, Thu H and Wu, Haojia and Akbarov, Artur and van der Most, Peter J and Hemani, Gibran and Hemani, Gibran and Smith, George Davey and Smith, George Davey and Mahajan, Anubha and Mahajan, Anubha and Gaulton, Kyle J and Gaulton, Kyle J and Nadkarni, Girish N and Nadkarni, Girish N and Valladares-Salgado, Adan and Valladares-Salgado, Adan and Wacher-Rodarte, Niels and Wacher-Rodarte, Niels and Mychaleckyj, Josyf C and Dueker, Nicole D and Guo, Xiuqing and Hai, Yang and Haessler, Jeffrey and Kamatani, Yoichiro and Kamatani, Yoichiro and Stilp, Adrienne M and Zhu, Gu and Zhu, Gu and Cook, James P and Ärnlöv, Johan and Blanton, Susan H and de Borst, Martin H and de Borst, Martin H and Bottinger, Erwin P and Bottinger, Erwin P and Buchanan, Thomas A and Buchanan, Thomas A and Cechova, Sylvia and Charchar, Fadi J and Chu, Pei-Lun and Damman, Jeffrey and Eales, James and Gharavi, Ali G and Gharavi, Ali G and Giedraitis, Vilmantas and Heath, Andrew C and Ipp, Eli and Ipp, Eli and Kiryluk, Krzysztof and Kiryluk, Krzysztof and Kramer, Holly J and Kramer, Holly J and Kubo, Michiaki and Kubo, Michiaki and Larsson, Anders and Lindgren, Cecilia M and Lu, Yingchang and Lu, Yingchang and Madden, Pamela A. F and Madden, Pamela A F and Montgomery, Grant W and Papanicolaou, George J and Raffel, Leslie J and Raffel, Leslie J and Sacco, Ralph L and Sacco, Ralph L and Sanchez, Elena and Sanchez, Elena and Stark, Holger and Sundstrom, Johan and Sundstrom, Johan and Taylor, Kent D and Xiang, Anny H and Xiang, Anny H and Zivkovic, Aleksandra and Lind, Lars and Ingelsson, Erik and Ingelsson, Erik and Martin, Nicholas G and Whitfield, John B and Whitfield, John B and Cai, Jianwen and Laurie, Cathy C and Okada, Yukinori and Okada, Yukinori and Matsuda, Koichi and Kooperberg, Charles and Chen, Yii-Der Ida and Rundek, Tatjana and Rundek, Tatjana and Rich, Stephen S and Rich, Stephen S and Loos, Ruth J F and Loos, Ruth J. F and Parra, Esteban J and Parra, Esteban J and Cruz, Miguel and ... and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature Communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 29 - 29
Journal Article
Genome biology, ISSN 1474-760X, 06/2019, Volume 20, Issue 1, pp. 117 - 117
Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse... 
Datasets | Breakpoints | Algorithms | Clonal deletion | Copy number | Genomes | Variation | Bioinformatics | Genotypes | Index Medicus | WGS | CNV | Copy number variation | Next generation sequencing | Structural variation
Journal Article
Journal Article
European journal of human genetics : EJHG, 09/2019
We performed genome-wide association studies of five gynecologic diseases using data of 46,837 subjects (5236 uterine fibroid, 645 endometriosis, 647 ovarian... 
Index Medicus
Journal Article
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 09/2019
Suicide is a significant public health problem worldwide, and several Asian countries including Japan have relatively high suicide rates on a world scale.... 
Journal Article
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 09/2019, Volume 106, Issue 3, pp. 623 - 631
Allopurinol, which lowers uric acid ( UA ) concentration, is increasingly being recognized for its benefits in cardiovascular and renal disease. However,... 
ADULT HEALTH | OXYPURINOL | GENETIC EPIDEMIOLOGY RESEARCH | HYPERURICEMIA | TRANSPORTER | PHARMACOKINETICS | GOUT | POOR RESPONSE | PHARMACOLOGY & PHARMACY | Index Medicus | Abridged Index Medicus
Journal Article
Molecular biology and evolution, 08/2019
Recent reports have identified differences in the mutational spectra across human populations. While some of these reports have been replicated in other... 
Index Medicus
Journal Article
Psychiatry and clinical neurosciences, 08/2019
Recent studies revealed that the interplay between polygenic risk scores (PRSs) and large copy number variants (CNVs: >500kb) is essential for the etiology of... 
Index Medicus
Journal Article
Translational psychiatry, 08/2019, Volume 9, Issue 1, pp. 205 - 7
Over 3000 candidate gene association studies have been performed to elucidate the genetic underpinnings of schizophrenia. However, a comprehensive evaluation... 
Studies | Schizophrenia | Meta-analysis | Index Medicus
Journal Article
Cold Spring Harbor molecular case studies, 08/2019
Intellectual disability (ID) is a clinically and genetically heterozygous developmental brain disorder. The present study describes two male siblings, aged 7... 
Journal Article
Journal Article