1,721,103 research outputs found
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
The role of rare copy number variants and other candidate alleles in hereditary breast cancer susceptibility
Full text linkAbstract
Breast cancer is the most common cancer in women worldwide. Out of approximately every eight women, one will develop breast cancer during their lifetime. Based on the familial clustering of the disease, it has been estimated that up to 10% of all cases stem from a strong hereditary predisposition. Multiple pathogenic variants in high-risk genes (e.g., BRCA1, BRCA2 and PALB2), moderate-risk genes (e.g., ATM and CHEK2), and low-risk loci have been identified as risk factors. However, they still explain only around half of the inherited risk. The identification of new susceptibility factors has the potential to improve genetic counseling and personalized cancer screenings. The aim of this thesis was to identify new breast cancer predisposing variants by evaluating the prevalence of selected candidate alleles and recurrent copy number variants (CNVs) in the Northern Finnish breast cancer cohorts. In addition, risk estimations were refined for previously identified and locally enriched moderate-to-high risk variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, FANCM, MCPH1 and RAD50 DNA damage response (DDR) genes.
Enriched in Northern Finland, the protein-truncating variant NTHL1 p.Q90* and missense-variant CHEK2 Asp438Tyr were selected for evaluation based on their unclear clinical significance and potential association with breast cancer susceptibility implied by previous studies. Both variants turned out to be likely benign for breast cancer susceptibility with carrier frequencies similar to that in the general population.
The moderate-to-high risk variants in DDR genes had an overall prevalence of 7.1% in the breast cancer cohort and associated with specific breast cancer subtypes. The identification of several double carriers supports a multiplicative risk model for the moderate- and high-risk variants.
CNVs are defined as gains or losses of genomic segments with a size of ≥1 kilobase (kb) and, in this thesis, identified by utilizing read-depth data from 98 whole-exome sequenced high-risk cases. Three recurrent CNVs were identified: deletion co-occurring with a retrotransposon insertion in RAD52, deletion in HSD17B14, and a partial duplication of RAD51C. RAD52 and HSD17B14 CNVs were significantly enriched in the familial cases, indicating that CNVs should be considered alongside single nucleotide variants when searching for inherited risk factors for breast cancer. Original papers Kumpula, T., Tervasmäki, A., Mantere, T., Koivuluoma, S., Huilaja, L., Tasanen, K., Winqvist, R., De Voer, R. M., & Pylkäs, K. (2020). Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition. Molecular Genetics & Genomic Medicine, 8(11), e1493. https://doi.org/10.1002/mgg3.1493 https://doi.org/10.1002/mgg3.1493 Self-archived version Kumpula, T. A., Koivuluoma, S., Soikkonen, L., Vorimo, S., Moilanen, J., Winqvist, R., Mantere, T., Kuismin, O., & Pylkäs, K. (2023). Evaluating the role of CHEK2 p.(Asp438tyr) allele in inherited breast cancer predisposition. Familial Cancer, 22(3), 291–294. https://doi.org/10.1007/s10689-023-00327-2 https://doi.org/10.1007/s10689-023-00327-2 Self-archived version Tervasmäki, A., Kumpula, T. A., Grip, M., Koivuluoma, S., Winqvist, R., Mantere, T., & Pylkäs, K. (2024). Population-based study of recurrent DNA damage response gene variants in 2343 Northern Finnish breast cancer cases. Manuscript submitted for publication. Kumpula, T. A., Vorimo, S., Mattila, T. T., O’Gorman, L., Astuti, G., Tervasmäki, A., Koivuluoma, S., Mattila, T. M., Grip, M., Winqvist, R., Kuismin, O., Moilanen, J., Hoischen, A., Gilissen, C., Mantere, T., & Pylkäs, K. (2023). Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. PLOS Genetics, 19(8), e1010889. https://doi.org/10.1371/journal.pgen.1010889 https://doi.org/10.1371/journal.pgen.1010889 Self-archived version Tiivistelmä
Rintasyöpä on naisten yleisin syöpä ja noin joka kahdeksas nainen sairastuu siihen elämänsä aikana. Rintasyöpätapausten kasaantumisen perusteella tiettyihin sukuihin on arvioitu, että jopa 10 % kaikista tapauksista johtuu vahvasta perinnöllisestä alttiudesta. Rintasyövälle altistavia perinnöllisiä variantteja on tunnistettu korkean riskin geeneissä (esim. BRCA1, BRCA2 ja PALB2), kohtalaisen riskin geeneissä (ATM ja CHEK2) ja matalan riskin lokuksissa. Tunnetut variantit selittävät kuitenkin vain noin puolet rintasyöpäperheistä. Uusien perinnöllisten riskitekijöiden tunnistaminen kehittää perinnöllisyysneuvontaa ja edistää syöpäseulontojen suunnittelua mutaatioiden kantajille. Väitöskirjan tavoitteena oli löytää uusia rintasyöpäalttiutta lisääviä variantteja tutkimalla valikoitujen kandidaattialleelien ja genomin yli tuhannen emäsparin rakenteellisten muutosten (kopiolukumuutosten) yleisyyttä pohjoissuomalaisissa rintasyöpäkohorteissa. Lisäksi väitöskirjassa tarkennettiin riskilukuja tunnetuille ja paikallisesti rikastuneille kohtalaisen- ja korkean riskin varianteille DNA:n vauriovastegeeneissä (BRCA1, BRCA2, PALB2, ATM, CHEK2, FANCM, MCPH1 ja RAD50).
Pohjois-Suomeen rikastuneet trunkaatiovariantti NTHL1 p.Q90* ja missense-variantti CHEK2 Asp438Tyr valittiin tutkittaviksi niiden epäselvän kliinisen merkityksen ja aikaisemmissa tutkimuksissa havaitun yhteyden mahdollisesti kohonneeseen rintasyöpäriskiin takia. Molemmat variantit osoittautuivat heterotsygoottisina todennäköisesti harmittomiksi rintasyövälle kantajafrekvenssillä, joka oli sama kuin terveissä kontrolleissa.
DNA:n vauriovastegeeneissä sijaitsevien tunnettujen haitallisten varianttien yleisyys rintasyöpäkohortissa oli 7,1 % ja useat variantit assosioituivat tiettyihin rintasyövän alatyyppeihin. Tuplakantajien kohonnut osuus rintasyöpätapauksissa tukee ajatusta kohtalaisen ja korkean riskin varianttien kerrannaisesta riskimallista.
Kolme tunnistettua kandidaattikopiolukumuutosta olivat deleetion ja insertion yhdistelmä RAD52 geenissä, deleetio HSD17B14 geenissä ja osittainen duplikaatio RAD51C geenissä. RAD52 ja HSD17B14 kopiolukumuutokset olivat rikastuneet tapauksissa, joilla epäillään perinnöllistä alttiutta rintasyövälle. Tulosten perusteella kopiolukumuutoksia tulee tarkastella yhdessä nukleotiditason muutosten kanssa, erityisesti kun etsitään uusia perinnöllisiä alttiustekijöitä rintasyövälle. Osajulkaisut Kumpula, T., Tervasmäki, A., Mantere, T., Koivuluoma, S., Huilaja, L., Tasanen, K., Winqvist, R., De Voer, R. M., & Pylkäs, K. (2020). Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition. Molecular Genetics & Genomic Medicine, 8(11), e1493. https://doi.org/10.1002/mgg3.1493 https://doi.org/10.1002/mgg3.1493 Rinnakkaistallennettu versio Kumpula, T. A., Koivuluoma, S., Soikkonen, L., Vorimo, S., Moilanen, J., Winqvist, R., Mantere, T., Kuismin, O., & Pylkäs, K. (2023). Evaluating the role of CHEK2 p.(Asp438tyr) allele in inherited breast cancer predisposition. Familial Cancer, 22(3), 291–294. https://doi.org/10.1007/s10689-023-00327-2 https://doi.org/10.1007/s10689-023-00327-2 Rinnakkaistallennettu versio Tervasmäki, A., Kumpula, T. A., Grip, M., Koivuluoma, S., Winqvist, R., Mantere, T., & Pylkäs, K. (2024). Population-based study of recurrent DNA damage response gene variants in 2343 Northern Finnish breast cancer cases. Manuscript submitted for publication. Kumpula, T. A., Vorimo, S., Mattila, T. T., O’Gorman, L., Astuti, G., Tervasmäki, A., Koivuluoma, S., Mattila, T. M., Grip, M., Winqvist, R., Kuismin, O., Moilanen, J., Hoischen, A., Gilissen, C., Mantere, T., & Pylkäs, K. (2023). Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. PLOS Genetics, 19(8), e1010889. https://doi.org/10.1371/journal.pgen.1010889 https://doi.org/10.1371/journal.pgen.1010889 Rinnakkaistallennettu versio Academic dissertation to be presented with the assent of the Doctoral Programme Committee of Health and Biosciences of the University of Oulu for public defence in the Markku Larmas auditorium (H1091) in Dentopolis (Aapistie 3), on 29 November 2024, at 12 noonAbstract
Breast cancer is the most common cancer in women worldwide. Out of approximately every eight women, one will develop breast cancer during their lifetime. Based on the familial clustering of the disease, it has been estimated that up to 10% of all cases stem from a strong hereditary predisposition. Multiple pathogenic variants in high-risk genes (e.g., BRCA1, BRCA2 and PALB2), moderate-risk genes (e.g., ATM and CHEK2), and low-risk loci have been identified as risk factors. However, they still explain only around half of the inherited risk. The identification of new susceptibility factors has the potential to improve genetic counseling and personalized cancer screenings. The aim of this thesis was to identify new breast cancer predisposing variants by evaluating the prevalence of selected candidate alleles and recurrent copy number variants (CNVs) in the Northern Finnish breast cancer cohorts. In addition, risk estimations were refined for previously identified and locally enriched moderate-to-high risk variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, FANCM, MCPH1 and RAD50 DNA damage response (DDR) genes.
Enriched in Northern Finland, the protein-truncating variant NTHL1 p.Q90* and missense-variant CHEK2 Asp438Tyr were selected for evaluation based on their unclear clinical significance and potential association with breast cancer susceptibility implied by previous studies. Both variants turned out to be likely benign for breast cancer susceptibility with carrier frequencies similar to that in the general population.
The moderate-to-high risk variants in DDR genes had an overall prevalence of 7.1% in the breast cancer cohort and associated with specific breast cancer subtypes. The identification of several double carriers supports a multiplicative risk model for the moderate- and high-risk variants.
CNVs are defined as gains or losses of genomic segments with a size of ≥1 kilobase (kb) and, in this thesis, identified by utilizing read-depth data from 98 whole-exome sequenced high-risk cases. Three recurrent CNVs were identified: deletion co-occurring with a retrotransposon insertion in RAD52, deletion in HSD17B14, and a partial duplication of RAD51C. RAD52 and HSD17B14 CNVs were significantly enriched in the familial cases, indicating that CNVs should be considered alongside single nucleotide variants when searching for inherited risk factors for breast cancer.Tiivistelmä
Rintasyöpä on naisten yleisin syöpä ja noin joka kahdeksas nainen sairastuu siihen elämänsä aikana. Rintasyöpätapausten kasaantumisen perusteella tiettyihin sukuihin on arvioitu, että jopa 10 % kaikista tapauksista johtuu vahvasta perinnöllisestä alttiudesta. Rintasyövälle altistavia perinnöllisiä variantteja on tunnistettu korkean riskin geeneissä (esim. BRCA1, BRCA2 ja PALB2), kohtalaisen riskin geeneissä (ATM ja CHEK2) ja matalan riskin lokuksissa. Tunnetut variantit selittävät kuitenkin vain noin puolet rintasyöpäperheistä. Uusien perinnöllisten riskitekijöiden tunnistaminen kehittää perinnöllisyysneuvontaa ja edistää syöpäseulontojen suunnittelua mutaatioiden kantajille. Väitöskirjan tavoitteena oli löytää uusia rintasyöpäalttiutta lisääviä variantteja tutkimalla valikoitujen kandidaattialleelien ja genomin yli tuhannen emäsparin rakenteellisten muutosten (kopiolukumuutosten) yleisyyttä pohjoissuomalaisissa rintasyöpäkohorteissa. Lisäksi väitöskirjassa tarkennettiin riskilukuja tunnetuille ja paikallisesti rikastuneille kohtalaisen- ja korkean riskin varianteille DNA:n vauriovastegeeneissä (BRCA1, BRCA2, PALB2, ATM, CHEK2, FANCM, MCPH1 ja RAD50).
Pohjois-Suomeen rikastuneet trunkaatiovariantti NTHL1 p.Q90* ja missense-variantti CHEK2 Asp438Tyr valittiin tutkittaviksi niiden epäselvän kliinisen merkityksen ja aikaisemmissa tutkimuksissa havaitun yhteyden mahdollisesti kohonneeseen rintasyöpäriskiin takia. Molemmat variantit osoittautuivat heterotsygoottisina todennäköisesti harmittomiksi rintasyövälle kantajafrekvenssillä, joka oli sama kuin terveissä kontrolleissa.
DNA:n vauriovastegeeneissä sijaitsevien tunnettujen haitallisten varianttien yleisyys rintasyöpäkohortissa oli 7,1 % ja useat variantit assosioituivat tiettyihin rintasyövän alatyyppeihin. Tuplakantajien kohonnut osuus rintasyöpätapauksissa tukee ajatusta kohtalaisen ja korkean riskin varianttien kerrannaisesta riskimallista.
Kolme tunnistettua kandidaattikopiolukumuutosta olivat deleetion ja insertion yhdistelmä RAD52 geenissä, deleetio HSD17B14 geenissä ja osittainen duplikaatio RAD51C geenissä. RAD52 ja HSD17B14 kopiolukumuutokset olivat rikastuneet tapauksissa, joilla epäillään perinnöllistä alttiutta rintasyövälle. Tulosten perusteella kopiolukumuutoksia tulee tarkastella yhdessä nukleotiditason muutosten kanssa, erityisesti kun etsitään uusia perinnöllisiä alttiustekijöitä rintasyövälle
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