Opin vísindi

Browsing by Author "Melsted, Páll"

Browsing by Author "Melsted, Páll"

Sort by: Order: Results:

  • Icon
    Bifrost: highly parallel construction and indexing of colored and compacted de Bruijn graphs 
    Holley, Guillaume; Melsted, Páll (Springer Science and Business Media LLC, 2020-09-17)
    Memory consumption of de Bruijn graphs is often prohibitive. Most de Bruijn graph-based assemblers reduce the complexity by compacting paths into single vertices, but this is challenging as it requires the uncompacted de Bruijn graph to be available ...
  • Icon
    Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank 
    Ólafsdóttir, Thorhildur; Thorleifsson, Gudmar; sulem, patrick; Stefánsson, Ólafur A.; Medek, Helga; Olafsson, Karl; Ingþórsson, Orri; Guðmundsson, Valur; Jonsdottir, Ingileif; Halldorsson, Gisli; Kristjansson, Ragnar; Frigge, Michael L.; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Oddsson, Asmundur; Sigurðsson, Ásgeir; Eggertsson, Hannes P.; Melsted, Páll; Halldórsson, Bjarni; Lund, Sigrún Helga; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Gudmundsson, Julius; Holm, Hilma; Tragante do O, Vinicius; Asselbergs, Folkert; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Jónsdóttir, Kristín; Rafnar, Thorunn; Stefansson, Kari (Springer Science and Business Media LLC, 2020-03-17)
    Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total ...
  • Icon
    GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs 
    Eggertsson, Hannes; Kristmundsdóttir, Snædís; Beyter, Doruk; Jónsson, Hákon; Skúladóttir, Ástrós; Hardarson, Marteinn; Gudbjartsson, Daniel; Stefansson, Kari; Halldórsson, Bjarni; Melsted, Páll (Springer Science and Business Media LLC, 2019-11-27)
    Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, ...
  • Icon
    The Lair: a resource for exploratory analysis of published RNA-Seq data 
    Pimentel, Harold; Sturmfels, Pascal; Bray, Nicolas; Melsted, Páll; Pachter, Lior (Springer Nature, 2016-12)
    Increased emphasis on reproducibility of published research in the last few years has led to the large-scale archiving of sequencing data. While this data can, in theory, be used to reproduce results in papers, it is difficult to use in practice. We ...
  • Icon
    A partial loss-of-function variant in STAT6 protects against type 2 asthma 
    Kristjansdottir, Katla; Norddahl, Gudmundur L; Ivarsdottir, Erna V; Halldórsson, Gísli Hreinn; Einarsson, Gudmundur; Bjarnadottir, Kristbjorg; Rutsdottir, Gudrun; Arnthorsson, Asgeir O; Erikstrup, Christian; Gudmundsdottir, Steinunn; Gunnarsdottir, Kristbjorg; Gunnbjörnsdóttir, María I; Halldórsson, Bjarni Vilhjálmur; Holm, Hilma; Lúðvíksdóttir, Dóra; Lúðvíksson, Björn Rúnar; Brunak, Søren; Bruun, Mie Topholm; Mikkelsen, Christina; Mikkelsen, Susan; Jensen, Bitten Aagaard; Sørensen, Erik; Thomsen, Simon Francis; Ullum, Henrik; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Ostrowski, Sisse Rye; Sævarsdóttir, Sædís; Sigurdardottir, Olof; Sigurgeirsson, Bardur; Snaebjarnarson, Audunn S; Sveinbjornsson, Gardar; Thorlacius, Gudny E; Thorleifsson, Gudmar; Tragante, Vinicius; Vidarsson, Brynjar; Porsbjerg, Celeste; Björnsdóttir, Unnur Steina; Sulem, Patrick; Gudbjartsson, Daniel F; Melsted, Páll; Pedersen, Ole Bv; Jónsdóttir, Ingileif; Olafsdottir, Thorunn A; Stefánsson, Kári (2024-10-16)
    BACKGROUND: Signal transducer and activator of transcription 6 (STAT6) is central to type 2 (T2) inflammation, and common noncoding variants at the STAT6 locus associate with various T2 inflammatory traits, including diseases, and its pathway is widely ...
  • Icon
    A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy 
    Bjornsdottir, Gyda; Ívarsdóttir, Erna V.; Bjarnadóttir, Kristbjörg; Benonisdottir, Stefania; Gylfadottir, Sandra Sif; Arnadottir, Gudny; Benediktsson, Rafn; Halldorsson, Gisli; Helgadottir, Anna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Jonsdottir, Ingileif; Kristinsdóttir, Anna Margrét; Magnússon, Ólafur T.; Másson, Gísli; Melsted, Páll; Rafnar, Thorunn; Sigurðsson, Ásgeir; Sigurdsson, Gunnar; Skúladóttir, Ástrós; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Vikingsson, Arnor; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Hreinn; Thorsteinsdottir, Unnur; Norðdahl, Guðmundur L.; sulem, patrick; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Science and Business Media LLC, 2019-04-16)
    Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders ...
  • Icon
    Sequence variants influencing the regulation of serum IgG subclass levels 
    Ólafsdóttir, Þórunn Ásta; Thorleifsson, Gudmar; Lopez de Lapuente Portilla, Aitzkoa; Jonsson, Stefan; Stefánsdóttir, Lilja; Niroula, Abhishek; Jonasdottir, Aslaug; Eggertsson, Hannes P.; Halldórsson, Gísli Hreinn; Thorlacius, Gudny E.; Arnthorsson, Asgeir O.; Björnsdóttir, Unnur Steina; Asselbergs, Folkert W.; Bentlage, Arthur E.H.; Eyjolfsson, Gudmundur I.; Gudmundsdottir, Steinunn; Gunnarsdottir, Kristbjorg; Halldórsson, Bjarni Vilhjálmur; Holm, Hilma; Lúðvíksson, Björn Rúnar; Melsted, Páll; Norddahl, Gudmundur L.; Ólafsson, Ísleifur; Saevarsdottir, Saedis; Sigurdardottir, Olof; Sigurdsson, Asgeir; Temming, Robin; Önundarson, Páll Torfi; Þorsteinsdóttir, Unnur; Vidarsson, Gestur; Sulem, Patrick; Gudbjartsson, Daniel F.; Jónsdóttir, Ingileif; Nilsson, Björn; Stefánsson, Kári (2024-12)
    Immunoglobulin G (IgG) is the main isotype of antibody in human blood. IgG consists of four subclasses (IgG1 to IgG4), encoded by separate constant region genes within the Ig heavy chain locus (IGH). Here, we report a genome-wide association study on ...