Author

Alfonso Buil Demur

Capital Region of Denmark

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant effect prediction· 3 Research Focus:benchmarking· 2 Assay:DNA methylation· 2 Research Focus:gene regulatory network inference· 2 Assay:ATAC-seq· 1 Research Focus:eQTL / molecular QTL mapping· 1

Frequent Co-Authors

Thomas Mears WergeiD· 3 shared Anders Dupont BørglumiD· 2 shared Christian M. HageniD· 2 shared Christine Søholm HanseniD· 2 shared DAVID MICHAEL HOUGAARDiD· 2 shared James L. KennedyiD· 2 shared Jimmi NielseniD· 2 shared Jonas Bybjerg‐GrauholmiD· 2 shared

Activity by Year

2017-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Thomas Mears WergeORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineBritish Journal of CancerPeer-reviewedJul 14, 2026

Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening

Anne Krogh Nøhr, Marie Giehm Overby, Mads Munk Nielsen…·Steffen UIlltz Thorsen

This study evaluates polygenic risk scores (PRS) for colorectal cancer (CRC) screening, showing they stratify risk independently of ancestry and sex but offer limited additional predictive value when combined with FIT.

DOI 10.1038/s41416-026-03532-9

humanwhole-exome sequencing

GenomicsbioRxivPreprintJun 12, 2017

Mitochondrial DNA SNPs associated with Schizophrenia exhibit Highly Variable Inter-allelic Haplogroup Affiliation and Nuclear Genogeographic Affinity: Bi-Genomic Linkage Disequilibrium raises Major Concerns for Link to Disease

Christian M. Hagen, Vanessa Faria Gonçalves, Paula Louise Hedley…·Michael Christiansen

The paper reanalyzes mtDNA SNPs associated with schizophrenia in Danish populations, finding significant bi-genomic linkage disequilibrium that may confound disease associations.

4 citations

humanDNA methylation

GenomicsbioRxivPreprintJun 10, 2017

Complex spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes

Jonas Bybjerg‐Grauholm, Christian M. Hagen, Vanessa Faria Gonçalves…·Michael Christiansen

The paper analyzes the spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes, finding increased frequencies of certain haplogroups linked to immigration.

4 citations

humanDNA methylation

GenomicsbioRxivPreprintMay 25, 2017

Evaluation Of Chromatin Accessibility In Prefrontal Cortex Of Schizophrenia Cases And Controls

Julien Bryois, Melanie E. Garrett, Lingyun Song…·Gregory E. Crawford

The paper evaluates chromatin accessibility in prefrontal cortex samples from schizophrenia cases and controls, finding high heritability enrichment in open chromatin regions but no differential accessibility between groups.

7 citations

humanATAC-seq