Claussnitzer, M. et al. A short historical past of human illness genetics. Nature 577, 179–189 (2020).
Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish illness heritage. Hum. Mol. Genet. 8, 1913–1923 (1999).
Lim, E. T. et al. Distribution and medical influence of loss-of-function variants within the Finnish founder inhabitants. PLoS Genet. 10, e1004494 (2014).
Zuk, O. et al. Looking for lacking heritability: designing uncommon variant affiliation research. Proc. Natl Acad. Sci. USA 111, E455–E464 (2014).
Peltonen, L., Palotie, A. & Lange, Okay. Use of inhabitants isolates for mapping advanced traits. Nat. Rev. Genet. 1, 182–190 (2000).
Kerminen, S. et al. High quality-scale genetic construction in Finland. G3 7, 3459–3468 (2017).
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).
Fuchshuber, A. et al. Presymptomatic analysis of familial steroid-resistant nephrotic syndrome. Lancet 347, 1050–1051 (1996).
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).
Ostrer, H. A genetic profile of latest Jewish populations. Nat. Rev. Genet. 2, 891–898 (2001).
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).
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).
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).
Locke, A. E. et al. Exome sequencing of Finnish isolates enhances rare-variant affiliation energy. Nature 572, 323–328 (2019).
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).
Moises, H. W. et al. A world two-stage genome-wide seek for schizophrenia susceptibility genes. Nat. Genet. 11, 321–324 (1995).
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).
Byrnes, A. M. et al. Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum. Mutat. 31, 1155–1162 (2010).
Wilkie, A. O. The molecular foundation of genetic dominance. J. Med. Genet. 31, 89–98 (1994).
Landrum, M. J. et al. ClinVar: public archive of interpretations of clinically related variants. Nucleic Acids Res. 44, D862–D868 (2016).
Crystal, R. G. α1-Antitrypsin deficiency, emphysema, and liver illness. Genetic foundation and methods for remedy. J. Clin. Make investments. 85, 1343–1352 (1990).
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).
Karczewski, Okay. J. et al. The mutational constraint spectrum quantified from variation in 141,456 people. Nature 581, 434–443 (2020).
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).
Bycroft, C. et al. The UK Biobank useful resource with deep phenotyping and genomic knowledge. Nature 562, 203–209 (2018).
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).
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).
Niroula, A. & Vihinen, M. How good are pathogenicity predictors in detecting benign variants. PLoS Comput. Biol. 15, e1006481 (2019).
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).
Robertson, D. et al. Remoted failure of autonomic noradrenergic neurotransmission.N. Engl. J. Med. 314, 1494–1497 (1986).
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).
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).
Amorim, C. E. G. et al. The inhabitants genetics of human illness: the case of recessive, deadly mutations. PLoS Genet. 13, e1006915 (2017).
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).
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).
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).
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).
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).
Vogel, F. Scientific penalties of heterozygosity for autosomal-recessive ailments. Clin. Genet. 25, 381–415 (1984).
Gouagna, L. C. et al. Genetic variation in human HBB is related to Plasmodium falciparum transmission. Nat. Genet. 42, 328–331 (2010).
Pier, G. B. et al. Salmonella typhi makes use of CFTR to enter intestinal epithelial cells. Nature 393, 79–82 (1998).
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).
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).
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).
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).
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).
Guindo-Martinez, M. et al. The influence of non-additive genetic associations on age-related advanced ailments. Nat. Commun. 12, 2436 (2021).
Belbin, G. M. et al. Towards a fine-scale inhabitants well being monitoring system. Cell 184, 2068–2083 (2021).
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).
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).
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).