FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands

Autor: Ólavur Mortensen, Elisabet Thomsen, Leivur N. Lydersen, Katrin D. Apol, Pál Weihe, Bjarni á Steig, Guðrið Andorsdóttir, Thomas D. Als, Noomi O. Gregersen

Publikováno v: Mortensen, Ó, Thomsen, E, Lydersen, L N, Apol, K D, Weihe, P, Steig, B, Andorsdóttir, G, Als, T D & Gregersen, N O 2023, ' FarGen : Elucidating the distribution of coding variants in the isolated population of the Faroe Islands ', European Journal of Human Genetics, vol. 31, no. 3, pp. 329-337 . https://doi.org/10.1038/s41431-022-01227-2

Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen cohort, which consists of 1,541 individuals from the isolated population of the Faroe Islands. The purpose of this cohort is to serve as a reference catalog of co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28791ce56653bc7629fa8abd215fde1
https://doi.org/10.1038/s41431-022-01227-2

FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands

Autor: Noomi Gregersen, Ólavur Mortensen, Elisabet Thomsen, Leivur Lydersen, Katrin Apol, Pál Weihe, Bjarni á Steig, Guðrið Andorsdóttir, Thomas Als

Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen cohort, which consists of 1,541 individuals from the isolated population of the Faroe Islands. The purpose of this cohort is to serve as a reference catalog of co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15110b42da96591afb43871f28b32ef7
https://doi.org/10.21203/rs.3.rs-1744790/v1

Amyotrophic lateral sclerosis in the Faroe Islands - a genealogical study

Autor: Torben Hansen, Guðrið Andorsdóttir, Ólavur Mortensen, Maria Skaalum Petersen, Malan Johansen, Bjarni á Steig, Kirsten Svenstrup, Poul Joensen

Publikováno v: Amyotrophic lateral sclerosisfrontotemporal degeneration. 22(7-8)

In the Faroe Islands, a clustering of amyotrophic lateral sclerosis (ALS) was observed on the geographically isolated island, Suðuroy. This study aims to estimate the frequency of familial ALS (fALS) in the Faroes including 43 patients diagnosed wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf10cd4cc83cacb6d6891a10d493be44
https://pubmed.ncbi.nlm.nih.gov/32885668

Using dried blood spot samples from a trio for linked-read whole-exome sequencing

Autor: Guðrið Andorsdóttir, Ólavur Mortensen, Noomi Oddmarsdóttir Gregersen, Katrin Didriksen Apol, Bjarni á Steig, Leivur Nattestad Lydersen

Publikováno v: European Journal of Human Genetics

Long-term collection of dried blood spot (DBS) samples through newborn screening may have retrospective and prospective advantages, especially in combination with advanced analytical techniques. This work concerns whether linked-reads may overcome so

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce075158da7661b08b155bb31dd56702
https://pubmed.ncbi.nlm.nih.gov/30765883