Sunday, February 5, 2023
HomeNatureMono- and biallelic variant results on illness at biobank scale

Mono- and biallelic variant results on illness at biobank scale


  • Claussnitzer, M. et al. A short historical past of human illness genetics. Nature 577, 179–189 (2020).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish illness heritage. Hum. Mol. Genet. 8, 1913–1923 (1999).

    Article 
    CAS 

    Google Scholar
     

  • Lim, E. T. et al. Distribution and medical influence of loss-of-function variants within the Finnish founder inhabitants. PLoS Genet. 10, e1004494 (2014).

    Article 

    Google Scholar
     

  • Zuk, O. et al. Looking for lacking heritability: designing uncommon variant affiliation research. Proc. Natl Acad. Sci. USA 111, E455–E464 (2014).

    Article 
    CAS 

    Google Scholar
     

  • Peltonen, L., Palotie, A. & Lange, Okay. Use of inhabitants isolates for mapping advanced traits. Nat. Rev. Genet. 1, 182–190 (2000).

    Article 
    CAS 

    Google Scholar
     

  • Kerminen, S. et al. High quality-scale genetic construction in Finland. G3 7, 3459–3468 (2017).

    Article 

    Google Scholar
     

  • Martin, A. R. et al. Haplotype sharing supplies insights into fine-scale inhabitants historical past and illness in Finland. Am. J. Hum. Genet. 102, 760–775 (2018).

    Article 
    CAS 

    Google Scholar
     

  • Fuchshuber, A. et al. Presymptomatic analysis of familial steroid-resistant nephrotic syndrome. Lancet 347, 1050–1051 (1996).

    Article 
    CAS 

    Google Scholar
     

  • Polvi, A. et al. The Finnish illness heritage database (FinDis) update-a database for the genes mutated within the Finnish illness heritage delivered to the next-generation sequencing period. Hum. Mutat. 34, 1458–1466 (2013).

    Article 

    Google Scholar
     

  • Ostrer, H. A genetic profile of latest Jewish populations. Nat. Rev. Genet. 2, 891–898 (2001).

    Article 
    CAS 

    Google Scholar
     

  • Wildenberg, S. C. et al. A gene inflicting Hermansky-Pudlak syndrome in a Puerto Rican inhabitants maps to chromosome 10q2. Am. J .Hum. Genet. 57, 755–765 (1995).

    CAS 

    Google Scholar
     

  • Bouchard, J. P., Barbeau, A., Bouchard, R. & Bouchard, R. W. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can. J. Neurol. Sci. 5, 61–69 (1978).

    Article 
    CAS 

    Google Scholar
     

  • Mootha, V. Okay. et al. Identification of a gene inflicting human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl Acad. Sci. USA 100, 605–610 (2003).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Locke, A. E. et al. Exome sequencing of Finnish isolates enhances rare-variant affiliation energy. Nature 572, 323–328 (2019).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Macdonald, M. E. et al. A novel gene containing a trinucleotide repeat that’s expanded and unstable on Huntington’s illness chromosomes. Cell 72, 971–983 (1993).

    Article 

    Google Scholar
     

  • Moises, H. W. et al. A world two-stage genome-wide seek for schizophrenia susceptibility genes. Nat. Genet. 11, 321–324 (1995).

    Article 
    CAS 

    Google Scholar
     

  • The Wellcome Belief Case Management Consortium. Genome-wide affiliation research of 14,000 circumstances of seven frequent ailments and three,000 shared controls. Nature 447, 661–678 (2007).

    Article 

    Google Scholar
     

  • Byrnes, A. M. et al. Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum. Mutat. 31, 1155–1162 (2010).

    Article 
    CAS 

    Google Scholar
     

  • Wilkie, A. O. The molecular foundation of genetic dominance. J. Med. Genet. 31, 89–98 (1994).

    Article 
    CAS 

    Google Scholar
     

  • Landrum, M. J. et al. ClinVar: public archive of interpretations of clinically related variants. Nucleic Acids Res. 44, D862–D868 (2016).

    Article 
    CAS 

    Google Scholar
     

  • Crystal, R. G. α1-Antitrypsin deficiency, emphysema, and liver illness. Genetic foundation and methods for remedy. J. Clin. Make investments. 85, 1343–1352 (1990).

    Article 
    CAS 

    Google Scholar
     

  • Kurki, M. I. et al. FinnGen supplies genetic insights from a well-phenotyped remoted inhabitants. Nature https://doi.org/10.1038/s41586-022-05473-8 (2023).

  • Zhou, W. et al. Effectively controlling for case–management imbalance and pattern relatedness in large-scale genetic affiliation research. Nat. Genet. 50, 1335–1341 (2018).

    Article 
    CAS 

    Google Scholar
     

  • Karczewski, Okay. J. et al. The mutational constraint spectrum quantified from variation in 141,456 people. Nature 581, 434–443 (2020).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Lin, S. H., Brown, D. W. & Machiela, M. J. LDtrait: a web based device for figuring out printed phenotype associations in linkage disequilibrium. Most cancers Res. 80, 3443–3446 (2020).

    Article 
    CAS 

    Google Scholar
     

  • Bycroft, C. et al. The UK Biobank useful resource with deep phenotyping and genomic knowledge. Nature 562, 203–209 (2018).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Chan, D. Okay. & Chang, Okay. W. GJB2-associated listening to loss: systematic evaluation of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 124, E34–E53 (2014).

    Article 

    Google Scholar
     

  • Richards, S. et al. Requirements and tips for the interpretation of sequence variants: a joint consensus advice of the American Faculty of Medical Genetics and Genomics and the Affiliation for Molecular Pathology. Genet. Med. 17, 405–424 (2015).

    Article 

    Google Scholar
     

  • Niroula, A. & Vihinen, M. How good are pathogenicity predictors in detecting benign variants. PLoS Comput. Biol. 15, e1006481 (2019).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Wang, G., Sarkar, A., Carbonetto, P. & Stephens, M. A easy new method to variable choice in regression, with software to genetic advantageous mapping. J. R. Stat. Soc. B 82, 1273–1300 (2020).

    Article 
    MATH 

    Google Scholar
     

  • Robertson, D. et al. Remoted failure of autonomic noradrenergic neurotransmission.N. Engl. J. Med. 314, 1494–1497 (1986).

    Article 
    CAS 

    Google Scholar
     

  • Benson, D. W. et al. Congenital sick sinus syndrome brought on by recessive mutations within the cardiac sodium channel gene (SCN5A). J. Clin. Make investments. 112, 1019–1028 (2003).

    Article 
    CAS 

    Google Scholar
     

  • Wilkie, A. O. Dominance and recessivity. eLS https://doi.org/10.1038/npg.els.0005475 (2006).

  • Birchler, J. A. & Veitia, R. A. Gene stability speculation: connecting problems with dosage sensitivity throughout organic disciplines. Proc. Natl Acad. Sci. USA 109, 14746–14753 (2012).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Amorim, C. E. G. et al. The inhabitants genetics of human illness: the case of recessive, deadly mutations. PLoS Genet. 13, e1006915 (2017).

    Article 

    Google Scholar
     

  • Burkhart, B. D., Montgomery, E., Langley, C. H. & Voelker, R. A. Characterization of allozyme null and low exercise alleles from two pure populations of Drosophila melanogaster. Genetics 107, 295–306 (1984).

    Article 
    CAS 

    Google Scholar
     

  • Wright, C. F. et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a inhabitants setting. Am. J. Hum. Genet. 104, 275–286 (2019).

    Article 
    CAS 

    Google Scholar
     

  • Caridi, G. et al. Scientific options and long-term consequence of nephrotic syndrome related to heterozygous NPHS1 and NPHS2 mutations. Clin. J. Am. Soc. Nephrol. 4, 1065–1072 (2009).

    Article 
    CAS 

    Google Scholar
     

  • Hirai, Y. et al. Elevated threat of pores and skin most cancers in Japanese heterozygotes of xeroderma pigmentosum group A. J. Hum. Genet. 63, 1181–1184 (2018).

    Article 
    CAS 

    Google Scholar
     

  • Tanaka, Okay. et al. Evaluation of a human DNA excision restore gene concerned in group A xeroderma pigmentosum and containing a zinc-finger area. Nature 348, 73–76 (1990).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Vogel, F. Scientific penalties of heterozygosity for autosomal-recessive ailments. Clin. Genet. 25, 381–415 (1984).

    Article 
    CAS 

    Google Scholar
     

  • Gouagna, L. C. et al. Genetic variation in human HBB is related to Plasmodium falciparum transmission. Nat. Genet. 42, 328–331 (2010).

    Article 
    CAS 

    Google Scholar
     

  • Pier, G. B. et al. Salmonella typhi makes use of CFTR to enter intestinal epithelial cells. Nature 393, 79–82 (1998).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Ayi, Okay., Turrini, F., Piga, A. & Arese, P. Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a standard mechanism that will clarify safety towards falciparum malaria in sickle trait and beta-thalassemia trait. Blood 104, 3364–3371 (2004).

    Article 
    CAS 

    Google Scholar
     

  • Butters, T. D. et al. Mechanistic hyperlinks between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. Circ. Res. 107, 126–137 (2010).

    Article 
    CAS 

    Google Scholar
     

  • Kinnunen, S. et al. Spectrum of mutations in CFTR in Finland: 18 years follow-up research and identification of two novel mutations. J. Cyst. Fibros. 4, 233–237 (2005).

    Article 
    CAS 

    Google Scholar
     

  • Belbin, G. M. et al. Genetic identification of a standard collagen illness in Puerto Ricans through identity-by-descent mapping in a well being system. eLife 6, e25060 (2017).

    Article 

    Google Scholar
     

  • Gudbjartsson, D. F. et al. A frameshift deletion within the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. Eur. Coronary heart J. 38, 27–34 (2017).

    Article 
    CAS 

    Google Scholar
     

  • Guindo-Martinez, M. et al. The influence of non-additive genetic associations on age-related advanced ailments. Nat. Commun. 12, 2436 (2021).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • Belbin, G. M. et al. Towards a fine-scale inhabitants well being monitoring system. Cell 184, 2068–2083 (2021).

    Article 
    CAS 

    Google Scholar
     

  • Barton, A. R., Hujoel, M. L. A., Mukamel, R. E., Sherman, M. A. & Loh, P.-R. A spectrum of recessiveness amongst Mendelian illness variants in UK Biobank. Am. J. Hum. Genet. 109, 1298–1307 (2022).

    Article 
    CAS 

    Google Scholar
     

  • Palmer, D. S. et al. Evaluation of genetic dominance within the UK Biobank. Preprint at bioRxiv https://doi.org/10.1101/2021.08.15.456387 (2021).

  • Ivarsdottir, E. V. et al. The genetic structure of age-related listening to impairment revealed by genome-wide affiliation evaluation. Commun. Biol. 4, 706 (2021).

    Article 
    CAS 

    Google Scholar
     

  • Kals, M. et al. Benefits of genotype imputation with ethnically matched reference panel for uncommon variant affiliation analyses. Preprint at bioRxiv https://doi.org/10.1101/579201 (2019).

  • Grubb, R. Correlation between Lewis blood group and secretor character in man. Nature 162, 933 (1948).

    Article 
    ADS 
    CAS 

    Google Scholar
     

  • RELATED ARTICLES

    LEAVE A REPLY

    Please enter your comment!
    Please enter your name here

    Most Popular