Publications of the Institute for Biomedicine

Recent Submissions

  • Information Technology in CHRIS 

    Egger C (2019)
    At: BIDOC PhD-Programme. Graduate Course. Population-based studies in the -omics era ; Bolzano/Bozen ; 28/11/2019 - 29/11/2019

  • Access to fertility treatment under the General Scheme of the Assisted Human Reproduction Bill 2017 

    Staunton C (2019)
    At: Re(al) Productive Justice: Gender and Disability - Opening Conference ; Galway ; 23/05/2019

  • Institutional inertia: Challenges in urban water management on the path towards a water-sensitive Surabaya, Indonesia 

    Kösters M; Bichai F; Schwartz K (2020)
    Traditional approaches to urban water management are increasingly questioned. To understand whether the alternative Water Sensitive City (WSC) paradigm is applicable in Surabaya, Indonesia, its water governance system was ...

  • The CKDGen Consortium: ten years of insights into the genetic basis of kidney function 

    Köttgen A; Pattaro C (2020)

  • A catalog of genetic loci associated with kidney function from analyses of a million individuals 

    Wuttke M; Li Y; Li M; Sieber KB; Feitosa MF; Gorski M; Tin A; Wang L; Chu AY; Hoppmann A; Kirsten H; Giri A; Chai JF; Sveinbjornsson G; Tayo BO; Nutile T; Fuchsberger C; Marten J; Cocca M; Ghasemi S; Xu Y; Horn K; Noce D; van der Most PJ; Sedaghat S; Yu Z; Akiyama M; Afaq S; Ahluwalia TS; Almgren P; Amin N; Ärnlöv J; Bakker SJL; Bansal N; Baptista D; Bergmann S; Biggs ML; Biino G; Boehnke M; Boerwinkle E; Boissel M; Bottinger EP; Boutin TS; Brenner H; Brumat M; Burkhardt R; Butterworth AS; Campana E; Campbell A; Campbell H; Canouil M; Carroll RJ; Catamo E; Chambers JC; Chee ML; Chen X; Cheng CY; Cheng Y; Christensen K; Cifkova R; Ciullo M; Concas MP; Cook JP; Coresh J; Corre T; Sala CF; Cusi D; Danesh J; Daw EW; de Borst MH; De Grandi A; de Mutsert R; de Vries APJ; Degenhardt F; Delgado G; Demirkan A; Di Angelantonio E; Dittrich K; Divers J; Dorajoo R; Eckardt KU; Ehret G; Elliott P; Endlich K; Evans MK; Felix JF; Foo VHX; Franco OH; Franke A; Freedman BI; Freitag-Wolf S; Friedlander Y; Froguel P; Gansevoort RT; Gao H; Gasparini P; Gaziano JM; Giedraitis V; Gieger C; Girotto G; Giulianini F; Gögele M; Gordon SD; Gudbjartsson DF; Gudnason V; Haller T; Hamet P; Harris TB; Hartman CA; Hayward C; Hellwege JN; Heng CK; Hicks AA; Hofer E; Huang W; Hutri-Kähönen N; Hwang SJ; Ikram MA; Indridason OS; Ingelsson E; Ising M; Jaddoe VWV; Jakobsdottir J; Jonas JB; Joshi PK; Josyula NS; Jung B; Kähönen M; Kamatani Y; Kammerer CM; Kanai M; Kastarinen M; Kerr SM; Khor CC; Kiess W; Kleber ME; Koenig W; Kooner JS; Körner A; Kovacs P; Kraja AT; Krajcoviechova A; Kramer H; Krämer BK; Kronenberg F; Kubo M; Kühnel B; Kuokkanen M; Kuusisto J; La Bianca M; Laakso M; Lange LA; Langefeld CD; Lee JJ; Lehne B; Lehtimäki T; Lieb W; Lim SC; Lind L; Lindgren CM; Liu J; Loeffler M; Loos RJF; Lucae S; Lukas MA; Lyytikäinen LP; Mägi R; Magnusson PKE; Mahajan A; Martin NG; Martins J; März W; Mascalzoni D; Matsuda K; Meisinger C; Meitinger T; Melander O; Metspalu A; Mikaelsdottir EK; Milaneschi Y; Miliku K; Mishra PP; Mohlke KL; Mononen N; Montgomery GW; Mook-Kanamori DO; Mychaleckyj JC; Nadkarni GN; Nalls MA; Nauck M; Nikus K; Ning B; Nolte IM; Noordam R; O'Connell J; O'Donoghue ML; Olafsson I; Oldehinkel AJ; Orho-Melander M; Ouwehand WH; Padmanabhan S; Palmer ND; Palsson R; Penninx BWJH; Perls T; Perola M; Pirastu M; Pirastu N; Pistis G; Podgornaia AI; Polasek O; Ponte B; Porteous DJ; Poulain T; Pramstaller PP; Preuss MH; Prins BP; Province MA; Rabelink TJ; Raffield LM; Raitakari OT; Reilly DF; Rettig R; Rheinberger M; Rice KM; Ridker PM; Rivadeneira F; Rizzi F; Roberts DJ; Robino A; Rossing P; Rudan I; Rueedi R; Ruggiero D; Ryan KA; Saba Y; Sabanayagam C; Salomaa V; Salvi E; Saum KU; Schmidt H; Schmidt R; Schöttker B; Schulz CA; Schupf N; Shaffer CM; Shi Y; Smith AV; Smith BH; Soranzo N; Spracklen CN; Strauch K; Stringham HM; Stumvoll M; Svensson PO; Szymczak S; Tai ES; Tajuddin SM; Tan NYQ; Taylor KD; Teren A; Tham YC; Thiery J; Thio CHL; Thomsen H; Thorleifsson G; Toniolo D; Tönjes A; Tremblay J; Tzoulaki I; Uitterlinden AG; Vaccargiu S; van Dam RM; van der Harst P; van Duijn CM; Velez Edward DR; Verweij N; Vogelezang S; Völker U; Vollenweider P; Waeber G; Waldenberger M; Wallentin L; Wang YX; Wang C; Waterworth DM; Bin Wei W; White H; Whitfield JB; Wild SH; Wilson JF; Wojczynski MK; Wong C; Wong TY; Xu L; Yang Q; Yasuda M; Yerges-Armstrong LM; Zhang W; Zonderman AB; Rotter JI; Bochud M; Psaty BM; Vitart V; Wilson JG; Dehghan A; Parsa A; Chasman DI; Ho K; Morris AP; Devuyst O; Akilesh S; Pendergrass SA; Sim X; Böger CA; Okada Y; Edwards TL; Snieder H; Stefansson K; Hung AM; Heid IM; Scholz M; Teumer A; Köttgen A; Pattaro C (2019)
    Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate ...

  • Associations of autozygosity with a broad range of human phenotypes 

    Clark DW; Okada Y; Moore KHS; Mason D; Pirastu N; Gandin I; Mattsson H; Barnes CLK; Lin K; Zhao JH; Deelen P; Rohde R; Schurmann C; Guo X; Giulianini F; Zhang W; Medina-Gomez C; Karlsson R; Bao Y; Bartz TM; Baumbach C; Biino G; Bixley MJ; Brumat M; Chai JF; Corre T; Cousminer DL; Dekker AM; Eccles DA; van Eijk KR; Fuchsberger C; Gao H; Germain M; Gordon SD; de Haan HG; Harris SE; Hofer E; Huerta-Chagoya A; Igartua C; Jansen IE; Jia Y; Kacprowski T; Karlsson T; Kleber ME; Li SA; Li-Gao R; Mahajan A; Matsuda K; Meidtner K; Meng W; Montasser ME; van der Most PJ; Munz M; Nutile T; Palviainen T; Prasad G; Prasad RB; Priyanka TDS; Rizzi F; Salvi E; Sapkota BR; Shriner D; Skotte L; Smart MC; Smith AV; van der Spek A; Spracklen CN; Strawbridge RJ; Tajuddin SM; Trompet S; Turman C; Verweij N; Viberti C; Wang L; Warren HR; Wootton RE; Yanek LR; Yao J; Yousri NA; Zhao W; Adeyemo AA; Afaq S; Aguilar-Salinas CA; Akiyama M; Albert ML; Allison MA; Alver M; Aung T; Azizi F; Bentley AR; Boeing H; Boerwinkle E; Borja JB; de Borst GJ; Bottinger EP; Broer L; Campbell H; Chanock S; Chee ML; Chen G; Chen YI; Chen Z; Chiu YF; Cocca M; Collins FS; Concas MP; Corley J; Cugliari G; van Dam RM; Damulina A; Daneshpour MS; Day FR; Delgado GE; Dhana K; Doney ASF; Dörr M; Doumatey AP; Dzimiri N; Ebenesersdóttir SS; Elliott J; Elliott P; Ewert R; Felix JF; Fischer K; Freedman BI; Girotto G; Goel A; Gögele M; Goodarzi MO; Graff M; Granot-Hershkovitz E; Grodstein F; Guarrera S; Gudbjartsson DF; Guity K; Gunnarsson B; Guo Y; Hagenaars SP; Haiman CA; Halevy A; Harris TB; Hedayati M; van Heel DA; Hirata M; Höfer I; Hsiung CA; Huang J; Hung YJ; Ikram MA; Jagadeesan A; Jousilahti P; Kamatani Y; Kanai M; Kerrison ND; Kessler T; Khaw KT; Khor CC; de Kleijn DPV; Koh WP; Kolcic I; Kraft P; Krämer BK; Kutalik Z; Kuusisto J; Langenberg C; Launer LJ; Lawlor DA; Lee IT; Lee WJ; Lerch MM; Li L; Liu J; Loh M; London SJ; Loomis S; Lu Y; Luan J; Mägi R; Manichaikul AW; Manunta P; Másson G; Matoba N; Mei XW; Meisinger C; Meitinger T; Mezzavilla M; Milani L; Millwood IY; Momozawa Y; Moore A; Morange PE; Moreno-Macías H; Mori TA; Morrison AC; Muka T; Murakami Y; Murray AD; de Mutsert R; Mychaleckyj JC; Nalls MA; Nauck M; Neville MJ; Nolte IM; Ong KK; Orozco L; Padmanabhan S; Pálsson G; Pankow JS; Pattaro C; Pattie A; Polasek O; Poulter N; Pramstaller PP; Quintana-Murci L; Räikkönen K; Ralhan S; Rao DC; van Rheenen W; Rich SS; Ridker PM; Rietveld CA; Robino A; van Rooij FJA; Ruggiero D; Saba Y; Sabanayagam C; Sabater-Lleal M; Sala CF; Salomaa V; Sandow K; Schmidt H; Scott LJ; Scott WR; Sedaghati-Khayat B; Sennblad B; van Setten J; Sever PJ; Sheu WH; Shi Y; Shrestha S; Shukla SR; Sigurdsson JK; Sikka TT; Singh JR; Smith BH; Stančáková A; Stanton A; Starr JM; Stefansdottir L; Straker L; Sulem P; Sveinbjornsson G; Swertz MA; Taylor AM; Taylor KD; Terzikhan N; Tham YC; Thorleifsson G; Thorsteinsdottir U; Tillander A; Tracy RP; Tusié-Luna T; Tzoulaki I; Vaccargiu S; Vangipurapu J; Veldink JH; Vitart V; Völker U; Vuoksimaa E; Wakil SM; Waldenberger M; Wander GS; Wang YX; Wareham NJ; Wild S; Yajnik CS; Yuan JM; Zeng L; Zhang L; Zhou J; Amin N; Asselbergs FW; Bakker SJL; Becker DM; Lehne B; Bennett DA; van den Berg LH; Berndt SI; Bharadwaj D; Bielak LF; Bochud M; Boehnke M; Bouchard C; Bradfield JP; Brody JA; Campbell A; Carmi S; Caulfield MJ; Cesarini D; Chambers JC; Chandak GR; Cheng CY; Ciullo M; Cornelis M; Cusi D; Smith GD; Deary IJ; Dorajoo R; van Duijn CM; Ellinghaus D; Erdmann J; Eriksson JG; Evangelou E; Evans MK; Faul JD; Feenstra B; Feitosa M; Foisy S; Franke A; Friedlander Y; Gasparini P; Gieger C; Gonzalez C; Goyette P; Grant SFA; Griffiths LR; Groop L; Gudnason V; Gyllensten U; Hakonarson H; Hamsten A; van der Harst P; Heng CK; Hicks AA; Hochner H; Huikuri H; Hunt SC; Jaddoe VWV; De Jager PL; Johannesson M; Johansson Å; Jonas JB; Jukema JW; Junttila J; Kaprio J; Kardia SLR; Karpe F; Kumari M; Laakso M; van der Laan SW; Lahti J; Laudes M; Lea RA; Lieb W; Lumley T; Martin NG; März W; Matullo G; McCarthy MI; Medland SE; Merriman TR; Metspalu A; Meyer BF; Mohlke KL; Montgomery GW; Mook-Kanamori D; Munroe PB; North KE; Nyholt DR; O'connell JR; Ober C; Oldehinkel AJ; Palmas W; Palmer C; Pasterkamp GG; Patin E; Pennell CE; Perusse L; Peyser PA; Pirastu M; Polderman TJC; Porteous DJ; Posthuma D; Psaty BM; Rioux JD; Rivadeneira F; Rotimi C; Rotter JI; Rudan I; Den Ruijter HM; Sanghera DK; Sattar N; Schmidt R; Schulze MB; Schunkert H; Scott RA; Shuldiner AR; Sim X; Small N; Smith JA; Sotoodehnia N; Tai ES; Teumer A; Timpson NJ; Toniolo D; Tregouet DA; Tuomi T; Vollenweider P; Wang CA; Weir DR; Whitfield JB; Wijmenga C; Wong TY; Wright J; Yang J; Yu L; Zemel BS; Zonderman AB; Perola M; Magnusson PKE; Uitterlinden AG; Kooner JS; Chasman DI; Loos RJF; Franceschini N; Franke L; Haley CS; Hayward C; Walters RG; Perry JRB; Esko T; Helgason A; Stefansson K; Joshi PK; Kubo M; Wilson JF (2019)
    In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction ...

  • Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues 

    Gainotti S; Mascalzoni D; Bros-Facer V; Petrini C; Floridia G; Roos M; Salvatore M; Taruscio D (2018)
    The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an "odyssey" and, for some, a diagnosis may remain frustratingly ...

  • Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits 

    Raulerson CK; Ko A; Kidd JC; Currin KW; Brotman SM; Cannon ME; Wu Y; Spracklen CN; Jackson AU; Stringham HM; Welch RP; Fuchsberger C; Locke AE; Narisu N; Lusis AJ; Civelek M; Furey TS; Kuusisto J; Collins FS; Boehnke M; Scott LJ; Lin DY; Love MI; Laakso M; Pajukanta P; Mohlke KL (2019)
    Genome-wide association studies (GWASs) have identified thousands of genetic loci associated with cardiometabolic traits including type 2 diabetes (T2D), lipid levels, body fat distribution, and adiposity, although most ...

  • The Ethics of technologies with high socioeconomic impact and Human Rights relevance 

    Mascalzoni D; Howard H; Niemiec E (2019)
    At: SIENNA. Technology, ethica and human rights ; Gothenburg : 14.6.2019 - 15.6.2019

  • The GenomeAsia 100K Project enables genetic discoveries across Asia 

    Wall JD; Stawiski EW; Ratan A; Kim HL; Kim C; Gupta R; Suryamohan K; Gusareva ES; Purbojati RW; Bhangale T; Stepanov V; Kharkov V; Schröder MS; Ramprasad V; Tom J; Durinck S; Bei Q; Li J; Guillory J; Phalke S; Basu A; Stinson J; Nair S; Malaichamy S; Biswas NK; Chambers JC; Cheng KC; George JT; Khor SS; Kim JI; Cho B; Menon R; Sattibabu T; Bassi A; Deshmukh M; Verma A; Gopalan V; Shin JY; Pratapneni M; Santhosh S; Tokunaga K; Md-Zain BM; Chan KG; Parani M; Natarajan P; Hauser M; Allingham RR; Santiago-Turla C; Ghosh A; Gadde SGK; Fuchsberger C; Forer L; Schoenherr S; Sudoyo H; Lansing JS; Friedlaender J; Koki G; Cox MP; Hammer M; Karafet T; Ang KC; Mehdi SQ; Radha V; Mohan V; Majumder PP; Seshagiri S; Seo JS; Schuster SC; Peterson AS (2019)
    The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. ...

  • Exome sequencing identifies novel rare variant association signals in the Cooperative Health Research in South Tyrol (CHRIS) study 

    Emmert DB; Mitchell J; König E; Gögele M; Pattaro C; Pramstaller PP; Fuchsberger C (2019)
    In: 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, JUN 15-18, 2019, Meeting Abstract: P18.78B, p. 1777

  • Evaluation of the role of STAP1 in Familial Hypercholesterolemia 

    Danyel M; Ott CE; Grenkowitz T; Salewsky B; Hicks AA; Fuchsberger C; Steinhagen-Thiessen E; Bobbert T; Kassner U; Demuth I (2019)
    Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by ...

  • The impact of reference panel short-read sequencing inaccessibility on genotype imputation (P14.046B), in: Abstracts from the 51st European Society of Human Genetics Conference: Posters 

    Mitchell JS; König E; Gögele M; Pattaro C; Pramstaller PP; Fuchsberger C (2019)
    p. 514

  • Risky behaviors and Parkinson disease 

    Grover S; Lill CM; Kasten M; Klein C; Del Greco MF; König IR (2019)

  • Presentazione dell'attività e della biobanca dell'Istituto di Biomedicina di Eurac Research 

    De Grandi A (2019)
    At: GENOMICA e RICERCA TRASLAZIONALE in ONCOLOGIA: Quali prospettive per il Trentino-Alto Adige ; Trento ;  18/05/2019

  • Planning and running a population study: the CHRIS study resource 

    Gögele M (2019)
    At: BIDOC PhD-Programme. Graduate Course. Population-based studies in the -omics era ; Bolzano ; 28/11/2019 - 29/11/2019

  • Are requirements to deposit data in research repositories compatible with the GDPR? 

    Mascalzoni D; Bentzen HB (2019)
    At: European Society of Human Genetics ; Gothenburg ; 15/06/2019 - 18/06/2019

  • Protection of Personal Information Act 2013 

    Staunton C (2019)
    At: The Governance of Data Sharing for Health Research in South Africa ; Johannesburg ; 03/07/2019

  • The Governance of Health Data in South Africa 

    Staunton C (2019)
    At: The governance of data sharing for genomic and other health related data in Africa ; Cape Town ; 04/02/2019 - 05/02/2019

  • Updates to xcms: simplified raw data access and enhanced MS level > 1 capabilities 

    Rainer J; Gatto L; Neumann S (2019)
    At: Metabolomics 2019 ; The Hague ; 23/06/2019 - 27/08/2019 ; The xcms Bioconductor package is one of the standard toolboxes for the preprocessing of untargeted metabolomics data. Here we present recent updates to xcms, ...

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