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Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs. Retrospective review of individuals with suspected IRD based on clinical findings or diagnosis of associated syndrome who underwent genetic testing between 2009 and 2021. Self-reported race and ethnicity, ophthalmic examination findings, ERG results, and genetic testing findings were collected and analyzed. In 93 individuals (90 families) with suspected IRD, the diagnostic yield was 72% (67 individuals). The rate of diagnostic yield was not significantly associated with family history, associated syndromes, age at testing, ERG results, or ophthalmic exam findings. Further, higher rates of positive diagnostic yield were not associated with more recent genetic testing. There was a trend toward differences in diagnostic yield between races (77% White, 65% Other, 64% Asian, 50% Black) and ratio of pathogenic/likely pathogenic (P/LP) variants to variants of unknown significance (46%:54% White, 36%:64% Other, 31%:69% Asian, 30%:70% Black). Current genetic testing for IRDs trends toward higher diagnostic yield and identification of P/LP variants in patients identifying as White compared to other races. In order to prevent negative impacts on access to gene-targeted trials and treatments for non-White patients, wider genetic testing in diverse populations is required to create comprehensive catalogs of gene variants associated with IRDs.
Using a new nationally representative dataset, we find minor differences in test outcomes between black and white infants that disappear with a limited set of controls. However, relative to whites, all other races lose substantial ground by age two. Combining our estimates with results in prior literature, we show that a simple model with assortative mating fits our data well, implying that differences in children's environments between racial groups can fully explain gaps in intelligence. If parental ability influences a child's test scores both genetically and through environment, then our findings are less informative and can be reconciled with a wide range of racial differences in inherited intelligence.
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Genotypes and phenotypes of the nine cultivars for the resistance genes to each strain of race 65 of C. lindemuthianum.
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Extract from 2016 SCF focused on studying the impacts of race and education on inheritances
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ABSTRACT. Cotton producers worldwide suffer with the losses caused by the presence of phytonematodes. The aim of the present study was to investigate the inheritance of resistance to Meloidogyne incognita race 3 in Gossypium hirsutum variety punctatum accession TX 25. Accessions of Gossypium sp. were obtained from the germplasm bank of Embrapa Cotton. Two experiments were performed in two consecutive years. In the first experiment, a susceptible parental line, FiberMax 966, a resistant parental line, TX 25, and their F1, F2 and backcross generations were tested. In the second experiment, parental lines FiberMax 966 and TX 25, their F2 generation, and genotypes M315 (resistant), LA887 and DeltaOpal (moderately resistant) were tested. In both experiments, plants were inoculated with 2000 eggs and J2 of M. incognita race 3. The gall index, egg mass index and reproduction factor were evaluated 120 days following inoculation. In the first experiment, plants from the F1 and backcross generations were susceptible. Plants from the F2 generation presented a 3:1 resistant-to-susceptible ratio in the two experiments, indicating oligogenic resistance.
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Reaction pattern of the 12 commercial cultivars of common bean inoculated with each evaluated strain of race 65 of C. lindemuthianum.
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The information about the mutation and carrier rate is shown in this figure. Pustular psoriasis caused by is yet described in OMIM. The abbreviations are as follows: AA, African Americans; EA, European Americans; ASW, American’s of African Ancestry in SW; CEU, Utah Residents (CEPH) with Northern and Western European ancestry; CHB, Han Chinese in Beijing; CHS, Southern Han Chinese; CLM, Colombian from Medellin; FIN, Finnish in Finland; GBR, British in England; IBS, Iberian population in Spain; JPT, Japanese in Tokyo; LWK, Luhya in Webuye; MXL, Mexican ancestry from Los Angeles; PUR, Puerto Rico from Puerto Rica; TSI, Toscani in Italia; YRI, Yoruba in Ibadan.
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Distribution of main genes identified related to ethnicity.
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Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
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Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs. Retrospective review of individuals with suspected IRD based on clinical findings or diagnosis of associated syndrome who underwent genetic testing between 2009 and 2021. Self-reported race and ethnicity, ophthalmic examination findings, ERG results, and genetic testing findings were collected and analyzed. In 93 individuals (90 families) with suspected IRD, the diagnostic yield was 72% (67 individuals). The rate of diagnostic yield was not significantly associated with family history, associated syndromes, age at testing, ERG results, or ophthalmic exam findings. Further, higher rates of positive diagnostic yield were not associated with more recent genetic testing. There was a trend toward differences in diagnostic yield between races (77% White, 65% Other, 64% Asian, 50% Black) and ratio of pathogenic/likely pathogenic (P/LP) variants to variants of unknown significance (46%:54% White, 36%:64% Other, 31%:69% Asian, 30%:70% Black). Current genetic testing for IRDs trends toward higher diagnostic yield and identification of P/LP variants in patients identifying as White compared to other races. In order to prevent negative impacts on access to gene-targeted trials and treatments for non-White patients, wider genetic testing in diverse populations is required to create comprehensive catalogs of gene variants associated with IRDs.