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  1. AU="Kilpeläinen, Elina"
  2. AU="Kong, Huating"
  3. AU="Chand, Chandini P"
  4. AU="Chen, Chenghao"
  5. AU="Dai, Guoping"
  6. AU=Liang Yulan AU=Liang Yulan
  7. AU="Llorens, Vincent"
  8. AU="Ansbacher, Tamar"
  9. AU=Ward Richard
  10. AU="Arnott, Wendy"
  11. AU="Jess L. Delves"
  12. AU="Fraigne, Jimmy"
  13. AU="Banerjee, Promila"
  14. AU="Bekier, John"
  15. AU="Lopes, Rogerio B"
  16. AU="Petese, Alessandro"
  17. AU="Villa, Eduardo"
  18. AU="Vinjamuri, Sobhan"
  19. AU="Schulze-Makuch, Dirk"
  20. AU=Lam Jamie C M
  21. AU="See Ting Leong"
  22. AU="Sangeeta Mangubhai"

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Treffer 1 - 8 von insgesamt 8

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  1. Artikel ; Online: High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases.

    Youssef, Omar / Loukola, Anu / Zidi-Mouaffak, Yossra H S / Tamlander, Max / Ruotsalainen, Sanni / Kilpeläinen, Elina / Mars, Nina / Ripatti, Samuli / Palotie, Aarno / Donner, Kati / Carpén, Olli

    Laboratory investigation; a journal of technical methods and pathology

    2024  Band 104, Heft 4, Seite(n) 100325

    Abstract: Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the "gold standard" for preservation of diagnostic human tissues, FFPE ...

    Abstract Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the "gold standard" for preservation of diagnostic human tissues, FFPE samples retain similar genetic information as matching blood samples, which could make FFPE samples an ideal resource for genomic analysis. However, research on this resource has been hindered by the perception that DNA extracted from FFPE samples is of poor quality. Here, we show that germline disease-predisposing variants and polygenic risk scores (PRS) can be identified from FFPE normal tissue (FFPE-NT) DNA with high accuracy. We optimized the performance of FFPE-NT DNA on a genome-wide array containing 657,675 variants. Via a series of testing and validation phases, we established a protocol for FFPE-NT genotyping with results comparable with blood genotyping. The median call rate of FFPE-NT samples in the validation phase was 99.85% (range 98.26%-99.94%) and median concordance with matching blood samples was 99.79% (range 98.85%-99.9%). We also demonstrated that a rare pathogenic PALB2 genetic variant predisposing to cancer can be correctly identified in FFPE-NT samples. We further imputed the FFPE-NT genotype data and calculated the FFPE-NT genome-wide PRS in 3 diseases and 4 disease risk variables. In all cases, FFPE-NT and matching blood PRS were highly concordant (all Pearson's r > 0.95). The ability to precisely genotype FFPE-NT on a genome-wide array enables translational genomics applications of archived FFPE-NT samples with the possibility to link to corresponding phenotypes and longitudinal health data.
    Mesh-Begriff(e) Humans ; Formaldehyde ; Genotype ; Tissue Fixation/methods ; Genetic Risk Score ; DNA/genetics ; Paraffin Embedding/methods
    Chemische Substanzen Formaldehyde (1HG84L3525) ; DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2024-01-14
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 80178-1
    ISSN 1530-0307 ; 0023-6837
    ISSN (online) 1530-0307
    ISSN 0023-6837
    DOI 10.1016/j.labinv.2024.100325
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

    Sandholm, Niina / Hotakainen, Ronja / Haukka, Jani K / Jansson Sigfrids, Fanny / Dahlström, Emma H / Antikainen, Anni A / Valo, Erkka / Syreeni, Anna / Kilpeläinen, Elina / Kytölä, Anastasia / Palotie, Aarno / Harjutsalo, Valma / Forsblom, Carol / Groop, Per-Henrik

    Genome medicine

    2022  Band 14, Heft 1, Seite(n) 132

    Abstract: Background: Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the ...

    Abstract Background: Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the burden of circulating lipoproteins. While common genetic variants modestly affect the serum lipid concentrations, rare genetic mutations can cause monogenic forms of hypercholesterolemia and other genetic disorders of lipid metabolism. We aimed to identify low-frequency protein-altering variants (PAVs) affecting lipoprotein and lipid traits.
    Methods: We analyzed whole-exome (WES) and whole-genome sequencing (WGS) data of 481 and 474 individuals with type 1 diabetes, respectively. The phenotypic data consisted of 79 serum lipid and apolipoprotein phenotypes obtained with clinical laboratory measurements and nuclear magnetic resonance spectroscopy.
    Results: The single-variant analysis identified an association between the LIPC p.Thr405Met (rs113298164) and serum apolipoprotein A1 concentrations (p=7.8×10
    Conclusions: We identified lipid and apolipoprotein-associated variants in the previously known LIPC and APOB genes, as well as PAVs in GTF3C5 associated with LDLC, and in RBM47 associated with apolipoprotein C-III concentrations, implicated as an independent CVD risk factor. Identification of rare loss-of-function variants has previously revealed genes that can be targeted to prevent CVD, such as the LDL cholesterol-lowering loss-of-function variants in the PCSK9 gene. Thus, this study suggests novel putative therapeutic targets for the prevention of CVD.
    Mesh-Begriff(e) Humans ; Proprotein Convertase 9/genetics ; Whole Exome Sequencing ; Cholesterol, LDL/genetics ; Apolipoprotein C-III/genetics ; Apolipoproteins/genetics ; Apolipoproteins B/genetics ; Cardiovascular Diseases ; RNA-Binding Proteins/genetics
    Chemische Substanzen PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-) ; Cholesterol, LDL ; Apolipoprotein C-III ; Apolipoproteins ; Apolipoproteins B ; RBM47 protein, human ; RNA-Binding Proteins
    Sprache Englisch
    Erscheinungsdatum 2022-11-23
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-022-01135-6
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data.

    Larjo, Antti / Eveleigh, Robert / Kilpeläinen, Elina / Kwan, Tony / Pastinen, Tomi / Koskela, Satu / Partanen, Jukka

    Frontiers in immunology

    2017  Band 8, Seite(n) 1815

    Abstract: The human leukocyte antigen (HLA) genes code for proteins that play a central role in the function of the immune system by presenting peptide antigens to T cells. As HLA genes show extremely high genetic polymorphism, HLA typing at the allele level is ... ...

    Abstract The human leukocyte antigen (HLA) genes code for proteins that play a central role in the function of the immune system by presenting peptide antigens to T cells. As HLA genes show extremely high genetic polymorphism, HLA typing at the allele level is demanding and is based on DNA sequencing. Determination of HLA alleles is warranted as HLA alleles are major genetic risk factors in autoimmune diseases and are matched in transplantation. Here, we compared the accuracy of several published HLA-typing algorithms that are based on next-generation sequencing (NGS) data. As genome sequencing is becoming increasingly common in research, we wanted to test how well HLA alleles can be deduced from genome data produced in studies with objectives other than HLA typing and in platforms not especially designed for HLA typing. The accuracies were assessed using datasets consisting of NGS data produced using an in-house sequencing platform, including the full 4 Mbp HLA segment, from 94 stem cell transplantation patients and exome sequences from 63 samples of the 1000 Genomes collection. In the patient dataset, none of the software gave perfect results for all the samples and genes when programs were used with the default settings. However, we found that ensemble prediction of the results or modifications of the settings could be used to improve accuracy. For the exome-only data, most of the algorithms did not perform very well. The results indicate that the use of these algorithms for accurate HLA allele determination is not straightforward when based on NGS data not especially targeted to the HLA typing and their accurate use requires HLA expertise.
    Sprache Englisch
    Erscheinungsdatum 2017
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2606827-8
    ISSN 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2017.01815
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Dissecting the contribution of single nucleotide polymorphisms in

    Airaksinen, Laura / Cerqueira, Juliana Xm / Huhtala, Heini / Saavalainen, Päivi / Yohannes, Dawit A / Mäki, Markku / Kurppa, Kalle / Kilpeläinen, Elina / Shcherban, Anastasia / Palotie, Aarno / Kaukinen, Katri / Lindfors, Katri

    Journal of translational autoimmunity

    2021  Band 4, Seite(n) 100128

    Abstract: Purpose and objectives: Given their role in homing immune cells to the intestine, CC motif chemokine receptor 9 (CCR9) and its specific ligand CC motif chemokine ligand 25 (CCL25) are interesting candidate genes for celiac disease. These genes are ... ...

    Abstract Purpose and objectives: Given their role in homing immune cells to the intestine, CC motif chemokine receptor 9 (CCR9) and its specific ligand CC motif chemokine ligand 25 (CCL25) are interesting candidate genes for celiac disease. These genes are located in regions previously shown to be associated with or linked to celiac disease, but no investigations on their association with various celiac disease phenotypes have so far been conducted. Here we studied such associations of both genotyped and imputed single nucleotide polymorphisms (SNPs) with either regulatory function or exonic location of the
    Results: Exploiting a carefully phenotyped cohort of 625 celiac disease patients and 1817 non-celiac controls, we identified that multiple SNPs with predicted regulatory function (RegulomeDB score ≤3a and/or eQTL effect) located between 100 kB upstream and downstream of
    Conclusions: We conclude that SNPs in the region of
    Sprache Englisch
    Erscheinungsdatum 2021-10-14
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ISSN 2589-9090
    ISSN (online) 2589-9090
    DOI 10.1016/j.jtauto.2021.100128
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

    Cerqueira, Juliana X M / Saavalainen, Päivi / Kurppa, Kalle / Laurikka, Pilvi / Huhtala, Heini / Nykter, Matti / L E Koskinen, Lotta / Yohannes, Dawit A / Kilpeläinen, Elina / Shcherban, Anastasia / Palotie, Aarno / Kaukinen, Katri / Lindfors, Katri

    Journal of human genetics

    2021  Band 66, Heft 6, Seite(n) 613–623

    Abstract: The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also ... ...

    Abstract The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also tested whether a polygenic risk score (PRS) based on genome-wide associated (GWA) data could explain the phenotypic variation. The phenotypic association of 39 non-HLA coeliac disease SNPs was tested in 625 thoroughly phenotyped coeliac disease patients and 1817 controls. To assess their cumulative effects a weighted genetic risk score (wGRS39) was built, and stratified by tertiles. In our PRS model in cases, we took the summary statistics from the largest GWA study in coeliac disease and tested their association at eight P value thresholds (P
    Mesh-Begriff(e) Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Adult ; Aged ; Ataxin-2/genetics ; Celiac Disease/epidemiology ; Celiac Disease/genetics ; Celiac Disease/pathology ; Child ; Child, Preschool ; Diabetes Mellitus/epidemiology ; Diabetes Mellitus/genetics ; Diabetes Mellitus/pathology ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Toll-Like Receptor 7/genetics ; Toll-Like Receptor 8/genetics ; Young Adult
    Chemische Substanzen ATXN2 protein, human ; Adaptor Proteins, Signal Transducing ; Ataxin-2 ; SH2B3 protein, human ; TLR7 protein, human ; TLR8 protein, human ; Toll-Like Receptor 7 ; Toll-Like Receptor 8
    Sprache Englisch
    Erscheinungsdatum 2021-01-15
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-020-00888-5
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Phenome-wide association studies across large population cohorts support drug target validation.

    Diogo, Dorothée / Tian, Chao / Franklin, Christopher S / Alanne-Kinnunen, Mervi / March, Michael / Spencer, Chris C A / Vangjeli, Ciara / Weale, Michael E / Mattsson, Hannele / Kilpeläinen, Elina / Sleiman, Patrick M A / Reilly, Dermot F / McElwee, Joshua / Maranville, Joseph C / Chatterjee, Arnaub K / Bhandari, Aman / Nguyen, Khanh-Dung H / Estrada, Karol / Reeve, Mary-Pat /
    Hutz, Janna / Bing, Nan / John, Sally / MacArthur, Daniel G / Salomaa, Veikko / Ripatti, Samuli / Hakonarson, Hakon / Daly, Mark J / Palotie, Aarno / Hinds, David A / Donnelly, Peter / Fox, Caroline S / Day-Williams, Aaron G / Plenge, Robert M / Runz, Heiko

    Nature communications

    2018  Band 9, Heft 1, Seite(n) 4285

    Abstract: Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we select 25 single ... ...

    Abstract Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we select 25 single nucleotide polymorphisms (SNPs) linked through genome-wide association studies (GWAS) to 19 candidate drug targets for common disease indications. We interrogate these SNPs by PheWAS in four large cohorts with extensive health information (23andMe, UK Biobank, FINRISK, CHOP) for association with 1683 binary endpoints in up to 697,815 individuals and conduct meta-analyses for 145 mapped disease endpoints. Our analyses replicate 75% of known GWAS associations (P < 0.05) and identify nine study-wide significant novel associations (of 71 with FDR < 0.1). We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. Our results demonstrate PheWAS as a powerful addition to the toolkit for drug discovery.
    Mesh-Begriff(e) Asthma/genetics ; Cohort Studies ; Databases, Factual ; Drug Discovery/methods ; Genetic Association Studies ; Genetic Pleiotropy ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods ; Humans ; Interferon-Induced Helicase, IFIH1/genetics ; Lipase/genetics ; Membrane Proteins/genetics ; Molecular Targeted Therapy/methods ; Phenotype ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Thromboembolism/genetics ; United Kingdom
    Chemische Substanzen Membrane Proteins ; Lipase (EC 3.1.1.3) ; adiponutrin, human (EC 3.1.1.3) ; IFIH1 protein, human (EC 3.6.1.-) ; Interferon-Induced Helicase, IFIH1 (EC 3.6.4.13)
    Sprache Englisch
    Erscheinungsdatum 2018-10-16
    Erscheinungsland England
    Dokumenttyp Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-018-06540-3
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.

    Kurki, Mitja I / Karjalainen, Juha / Palta, Priit / Sipilä, Timo P / Kristiansson, Kati / Donner, Kati M / Reeve, Mary P / Laivuori, Hannele / Aavikko, Mervi / Kaunisto, Mari A / Loukola, Anu / Lahtela, Elisa / Mattsson, Hannele / Laiho, Päivi / Della Briotta Parolo, Pietro / Lehisto, Arto A / Kanai, Masahiro / Mars, Nina / Rämö, Joel /
    Kiiskinen, Tuomo / Heyne, Henrike O / Veerapen, Kumar / Rüeger, Sina / Lemmelä, Susanna / Zhou, Wei / Ruotsalainen, Sanni / Pärn, Kalle / Hiekkalinna, Tero / Koskelainen, Sami / Paajanen, Teemu / Llorens, Vincent / Gracia-Tabuenca, Javier / Siirtola, Harri / Reis, Kadri / Elnahas, Abdelrahman G / Sun, Benjamin / Foley, Christopher N / Aalto-Setälä, Katriina / Alasoo, Kaur / Arvas, Mikko / Auro, Kirsi / Biswas, Shameek / Bizaki-Vallaskangas, Argyro / Carpen, Olli / Chen, Chia-Yen / Dada, Oluwaseun A / Ding, Zhihao / Ehm, Margaret G / Eklund, Kari / Färkkilä, Martti / Finucane, Hilary / Ganna, Andrea / Ghazal, Awaisa / Graham, Robert R / Green, Eric M / Hakanen, Antti / Hautalahti, Marco / Hedman, Åsa K / Hiltunen, Mikko / Hinttala, Reetta / Hovatta, Iiris / Hu, Xinli / Huertas-Vazquez, Adriana / Huilaja, Laura / Hunkapiller, Julie / Jacob, Howard / Jensen, Jan-Nygaard / Joensuu, Heikki / John, Sally / Julkunen, Valtteri / Jung, Marc / Junttila, Juhani / Kaarniranta, Kai / Kähönen, Mika / Kajanne, Risto / Kallio, Lila / Kälviäinen, Reetta / Kaprio, Jaakko / Kerimov, Nurlan / Kettunen, Johannes / Kilpeläinen, Elina / Kilpi, Terhi / Klinger, Katherine / Kosma, Veli-Matti / Kuopio, Teijo / Kurra, Venla / Laisk, Triin / Laukkanen, Jari / Lawless, Nathan / Liu, Aoxing / Longerich, Simonne / Mägi, Reedik / Mäkelä, Johanna / Mäkitie, Antti / Malarstig, Anders / Mannermaa, Arto / Maranville, Joseph / Matakidou, Athena / Meretoja, Tuomo / Mozaffari, Sahar V / Niemi, Mari E K / Niemi, Marianna / Niiranen, Teemu / O Donnell, Christopher J / Obeidat, Ma En / Okafo, George / Ollila, Hanna M / Palomäki, Antti / Palotie, Tuula / Partanen, Jukka / Paul, Dirk S / Pelkonen, Margit / Pendergrass, Rion K / Petrovski, Slavé / Pitkäranta, Anne / Platt, Adam / Pulford, David / Punkka, Eero / Pussinen, Pirkko / Raghavan, Neha / Rahimov, Fedik / Rajpal, Deepak / Renaud, Nicole A / Riley-Gillis, Bridget / Rodosthenous, Rodosthenis / Saarentaus, Elmo / Salminen, Aino / Salminen, Eveliina / Salomaa, Veikko / Schleutker, Johanna / Serpi, Raisa / Shen, Huei-Yi / Siegel, Richard / Silander, Kaisa / Siltanen, Sanna / Soini, Sirpa / Soininen, Hilkka / Sul, Jae Hoon / Tachmazidou, Ioanna / Tasanen, Kaisa / Tienari, Pentti / Toppila-Salmi, Sanna / Tukiainen, Taru / Tuomi, Tiinamaija / Turunen, Joni A / Ulirsch, Jacob C / Vaura, Felix / Virolainen, Petri / Waring, Jeffrey / Waterworth, Dawn / Yang, Robert / Nelis, Mari / Reigo, Anu / Metspalu, Andres / Milani, Lili / Esko, Tõnu / Fox, Caroline / Havulinna, Aki S / Perola, Markus / Ripatti, Samuli / Jalanko, Anu / Laitinen, Tarja / Mäkelä, Tomi P / Plenge, Robert / McCarthy, Mark / Runz, Heiko / Daly, Mark J / Palotie, Aarno

    Nature

    2023  Band 615, Heft 7952, Seite(n) E19

    Sprache Englisch
    Erscheinungsdatum 2023-02-24
    Erscheinungsland England
    Dokumenttyp Published Erratum
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-023-05837-8
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  8. Artikel ; Online: FinnGen provides genetic insights from a well-phenotyped isolated population.

    Kurki, Mitja I / Karjalainen, Juha / Palta, Priit / Sipilä, Timo P / Kristiansson, Kati / Donner, Kati M / Reeve, Mary P / Laivuori, Hannele / Aavikko, Mervi / Kaunisto, Mari A / Loukola, Anu / Lahtela, Elisa / Mattsson, Hannele / Laiho, Päivi / Della Briotta Parolo, Pietro / Lehisto, Arto A / Kanai, Masahiro / Mars, Nina / Rämö, Joel /
    Kiiskinen, Tuomo / Heyne, Henrike O / Veerapen, Kumar / Rüeger, Sina / Lemmelä, Susanna / Zhou, Wei / Ruotsalainen, Sanni / Pärn, Kalle / Hiekkalinna, Tero / Koskelainen, Sami / Paajanen, Teemu / Llorens, Vincent / Gracia-Tabuenca, Javier / Siirtola, Harri / Reis, Kadri / Elnahas, Abdelrahman G / Sun, Benjamin / Foley, Christopher N / Aalto-Setälä, Katriina / Alasoo, Kaur / Arvas, Mikko / Auro, Kirsi / Biswas, Shameek / Bizaki-Vallaskangas, Argyro / Carpen, Olli / Chen, Chia-Yen / Dada, Oluwaseun A / Ding, Zhihao / Ehm, Margaret G / Eklund, Kari / Färkkilä, Martti / Finucane, Hilary / Ganna, Andrea / Ghazal, Awaisa / Graham, Robert R / Green, Eric M / Hakanen, Antti / Hautalahti, Marco / Hedman, Åsa K / Hiltunen, Mikko / Hinttala, Reetta / Hovatta, Iiris / Hu, Xinli / Huertas-Vazquez, Adriana / Huilaja, Laura / Hunkapiller, Julie / Jacob, Howard / Jensen, Jan-Nygaard / Joensuu, Heikki / John, Sally / Julkunen, Valtteri / Jung, Marc / Junttila, Juhani / Kaarniranta, Kai / Kähönen, Mika / Kajanne, Risto / Kallio, Lila / Kälviäinen, Reetta / Kaprio, Jaakko / Kerimov, Nurlan / Kettunen, Johannes / Kilpeläinen, Elina / Kilpi, Terhi / Klinger, Katherine / Kosma, Veli-Matti / Kuopio, Teijo / Kurra, Venla / Laisk, Triin / Laukkanen, Jari / Lawless, Nathan / Liu, Aoxing / Longerich, Simonne / Mägi, Reedik / Mäkelä, Johanna / Mäkitie, Antti / Malarstig, Anders / Mannermaa, Arto / Maranville, Joseph / Matakidou, Athena / Meretoja, Tuomo / Mozaffari, Sahar V / Niemi, Mari E K / Niemi, Marianna / Niiranen, Teemu / O Donnell, Christopher J / Obeidat, Ma En / Okafo, George / Ollila, Hanna M / Palomäki, Antti / Palotie, Tuula / Partanen, Jukka / Paul, Dirk S / Pelkonen, Margit / Pendergrass, Rion K / Petrovski, Slavé / Pitkäranta, Anne / Platt, Adam / Pulford, David / Punkka, Eero / Pussinen, Pirkko / Raghavan, Neha / Rahimov, Fedik / Rajpal, Deepak / Renaud, Nicole A / Riley-Gillis, Bridget / Rodosthenous, Rodosthenis / Saarentaus, Elmo / Salminen, Aino / Salminen, Eveliina / Salomaa, Veikko / Schleutker, Johanna / Serpi, Raisa / Shen, Huei-Yi / Siegel, Richard / Silander, Kaisa / Siltanen, Sanna / Soini, Sirpa / Soininen, Hilkka / Sul, Jae Hoon / Tachmazidou, Ioanna / Tasanen, Kaisa / Tienari, Pentti / Toppila-Salmi, Sanna / Tukiainen, Taru / Tuomi, Tiinamaija / Turunen, Joni A / Ulirsch, Jacob C / Vaura, Felix / Virolainen, Petri / Waring, Jeffrey / Waterworth, Dawn / Yang, Robert / Nelis, Mari / Reigo, Anu / Metspalu, Andres / Milani, Lili / Esko, Tõnu / Fox, Caroline / Havulinna, Aki S / Perola, Markus / Ripatti, Samuli / Jalanko, Anu / Laitinen, Tarja / Mäkelä, Tomi P / Plenge, Robert / McCarthy, Mark / Runz, Heiko / Daly, Mark J / Palotie, Aarno

    Nature

    2023  Band 613, Heft 7944, Seite(n) 508–518

    Abstract: Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck ... ...

    Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored
    Mesh-Begriff(e) Humans ; Middle Aged ; Disease/genetics ; Estonia ; Finland ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Meta-Analysis as Topic ; Phenotype ; United Kingdom ; White People/genetics
    Sprache Englisch
    Erscheinungsdatum 2023-01-18
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-022-05473-8
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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