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Páll Melsted - Prófessor

Páll Melsted

–

Verkfræði- og náttúruvísindasvið

Páll Melsted

Prófessor

Aðsetur
Gróska / Gr-322
Sími
5254633 8521024
Tölvupóstur
pmelsted [hjá] hi.is

Starfseining
Iðnaðarverkfræði-, vélaverkfræði- og tölvunarfræðideild, kennsla
Vefsíða
http://notendur.hi.is/pmelsted/

ORCID vefsíða
https://orcid.org/0000-0002-8418-6724
Rannsóknagátt – Páll Melsted

Show Útgefið efni

2025

A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathwaysJournal of the American Academy of Dermatology
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesGenome Medicine
Missense variants in FRS3 affect body mass index in populations of diverse ancestriesNature Communications
Accurate quantification of nascent and mature RNAs from single-cell and single-nucleus RNA-seqNucleic Acids Research

2024

A partial loss-of-function variant in STAT6 protects against type 2 asthmaThe Journal of allergy and clinical immunology
Correction toNature
ErratumCommunications Biology
Gene-based burden tests of rare germline variants identify six cancer susceptibility genesNature Genetics
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiencyNature Genetics
kallisto, bustools and kb-python for quantifying bulk, single-cell and single-nucleus RNA-seqNature Protocols
Sequence variants influencing the regulation of serum IgG subclass levelsNature Communications
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid diseaseNature Communications
Transformers significantly improve splice site predictionCommunications Biology

2023

A chromosome-level genome assembly for the Rock Ptarmigan (Lagopus muta)G3: Genes, Genomes, Genetics
BUSZBioinformatics
Data from Loss-of-Function Variants in the Tumor-Suppressor Gene <i>PTPN14</i> Confer Increased Cancer Risk
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethalityNature Communications
Erratum to Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)Nature
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesisNature Genetics
Large-scale plasma proteomics comparisons through genetics and disease associationsNature
Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethalityNature Communications
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without auraNature Genetics
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticariaCommunications Biology
Supplementary Material from Loss-of-Function Variants in the Tumor-Suppressor Gene <i>PTPN14</i> Confer Increased Cancer Risk

2022

Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in IcelandNature Communications
HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2Communications Biology
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subsetAnnals of the rheumatic diseases.
Multiomics study of nonalcoholic fatty liver diseaseNature Genetics
Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategiesClinical Microbiology and Infection
The sequences of 150,119 genomes in the UK BiobankNature

2021

Genetic variants associated with platelet count are predictive of human disease and physiological markersCommunications Biology
Large-scale integration of the plasma proteome with genetics and diseaseNature Genetics
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLRCirculation: Genomic and Precision Medicine
Loss-of-function variants in the tumor-suppressor gene PTPN14 confer increased cancer riskCancer Research
Mapping the human genetic architecture of COVID-19Nature
Modular, efficient and constant-memory single-cell RNA-seq preprocessingNature Biotechnology
Molecular benchmarks of a SARS-CoV-2 epidemicNature Communications
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysisCommunications Biology
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibilityPLoS ONE

2020

Algorithm 1005ACM Transactions on Mathematical Software
Bifrost: highly parallel construction and indexing of colored and compacted de Bruijn graphsGenome Biology
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid diseaseNature
Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK BiobankCommunications Biology
Humoral immune response to SARS-COV-2 in IcelandNew England Journal of Medicine
Spread of SARS-CoV-2 in the Icelandic populationNew England Journal of Medicine

2019

A discriminative learning approach to differential expression analysis for single-cell RNA-seqNature Methods
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathyNature Communications
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphsNature Communications
The barcode, UMI, set format and BUStoolsBioinformatics

2018

Coding variants in and increase risk of atrial fibrillation.Communications Biology
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillationCommunications Biology
Insights into imprinting from parent-of-origin phased methylomes and transcriptomesNature Genetics

2017

Differential analysis of RNA-seq incorporating quantification uncertaintyNature Methods
Diversity in non-repetitive human sequences not found in the reference genomeNature Genetics
Graphtyper enables population-scale genotyping using pangenome graphsNature Genetics
Pseudoalignment for metagenomic read assignmentBioinformatics

2016

BamHashBioinformatics
ChopBAIBioinformatics
Looking into the past - The reaction of three grouse species to climate change over the last million years using whole genome sequencesMolecular Ecology
MashGenome Biology
Near-optimal probabilistic RNA-seq quantificationNature Biotechnology
PopInsBioinformatics
The Lair: a resource for exploratory analysis of published RNA-Seq dataBMC Bioinformatics

2014

KmerStreamBioinformatics

2012

A genome sequence resource for the aye-aye (daubentonia madagascariensis), a nocturnal lemur from madagascarGenome Biology and Evolution
Comparative RNA sequencing reveals substantial genetic variation in endangered primatesGenome Research
Maximum matchings in random bipartite graphs and the space utilization of Cuckoo Hash tablesRandom Structures and Algorithms

2011

An analysis of random-walk cuckoo hashingSIAM Journal on Computing
Efficient counting of k-mers in DNA sequences using a bloom filterBMC Bioinformatics
Randomly coloring simple hypergraphsInformation Processing Letters

2010

Finding a maximum matching in a sparse random graph in O(n) expected timeJournal of the ACM
Genomic-scale capture and sequencing of endogenous DNA from fecesMolecular Ecology

2009

An analysis of random-walk cuckoo hashing
Average-case analyses of Vickrey costs

2008

Finding a maximum matching in a sparse random graph in O(n) expected time
PageRank and the Random Surfer Model

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