Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fanny Dhelia Pajuste"'
Autor:
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed. Here, we investigated how common genetic factors (epilepsy polygenic risk scores,
Externí odkaz:
https://doaj.org/article/94371ca8bb284934af48236395a24f00
Autor:
Fanny-Dhelia Pajuste, Maido Remm
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Genomes exhibit large regions with segmental copy number variation, many of which include entire genes and are multiallelic. We have developed a computational method GeneToCN that counts the frequencies of gene-specific k-mers in FASTQ files
Externí odkaz:
https://doaj.org/article/7f41ced26aeb4e4f854aca02f2348d37
Publikováno v:
Mobile DNA, Vol 10, Iss 1, Pp 1-13 (2019)
Abstract Background Recently, alignment-free sequence analysis methods have gained popularity in the field of personal genomics. These methods are based on counting frequencies of short k-mer sequences, thus allowing faster and more robust analysis c
Externí odkaz:
https://doaj.org/article/39233ce8461147e697151abc2ba7650f
Autor:
Fanny-Dhelia Pajuste, Lauris Kaplinski, Märt Möls, Tarmo Puurand, Maarja Lepamets, Maido Remm
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Abstract We have developed a computational method that counts the frequencies of unique k-mers in FASTQ-formatted genome data and uses this information to infer the genotypes of known variants. FastGT can detect the variants in a 30x genome in less t
Externí odkaz:
https://doaj.org/article/e60e1692858c4df3bb8f5736e3177bde
Publikováno v:
Human Mutation. 42:777-786
MotivationKATK is a fast and accurate software tool for calling variants directly from raw NGS reads. It uses predefined k-mers to retrieve only the reads of interest from the FASTQ file and calls genotypes by aligning retrieved reads locally. KATK d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23fa4faed67b1fa4c6d1e74cac250d2b
https://doi.org/10.1002/humu.24197
https://doi.org/10.1002/humu.24197
Figure S1 and Figure S2 explaining the REF- and REF+ discovery algorithms. Figure S3 showing distribution of depth of coverage in tested individuals. Figure S4. A gel electrophoretic image showing the experimental validation of REFâ polymorphic Alu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::045dfcd391c4ba41eb848190f0a5f364
Autor:
Märt Möls, Lauris Kaplinski, Tarmo Puurand, Fanny-Dhelia Pajuste, Maido Remm, Maarja Lepamets
Publikováno v:
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
We have developed a computational method that counts the frequencies of uniquek-mers in FASTQ-formatted genome data and uses this information to infer the genotypes of known variants. FastGT can detect the variants in a 30x genome in less than 1 hour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47173d0275e5adbbab7003316b8ad365
https://doi.org/10.1038/s41598-017-02487-5
https://doi.org/10.1038/s41598-017-02487-5