A mean coverage of 30X was obtained when the sequencing reads were mapped to a human reference genome. Following further bioinformatic processing, allele calling, quality checks and filtering to match the genealogy DNA database SNPs, genotypes for approximately one million SNPs were established. The...
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the genome of which was sequenced to produce the first reference assembly, including the mitochondrial genome7. To obtain the present new reference assembly, we used these recent data based on the Illumina shotgun-sequencing technology and the present new...
an entire human genome can be sequenced within 2 days at the price of a few hundred dollars. The relatively modest costs per analysis, combined with excellent data quality [10], make whole genome sequencing (WGS) a valuable source of information in many clinical situations. Compared ...
The whole-genome resequencing data was generated for the samples from 36 wild mice by Illumina technology. Approximately 1.4 Tb data was acquired. Raw sequencing data for the 36 wild mice ranged from 24.4 to 54.3 Gb (Additional file1: Table S3). After mapping to the mouse reference genome (...
Motivation: Genotyping a set of variants from a database is an important step for identifying known genetic traits and disease related variants within an individual. The growing size of variant databases as well as the high depth of sequencing data pose an efficiency challenge. In clinical applicat...
Every haplotype structure has a unique smudge on the graph and the heat of the smudge indicates how frequently the haplotype structure is represented in the genome compared to the other structures. The image above is an ideal case, where the sequencing coverage is sufficient to beautifully separate...
(Supplementary Fig.10c). For 22/25 upstream breakpoints, the translocation partner of the breakpoint was within 100 kb of a super enhancer (SE) that is defined in the dbSUPER database38or in melanoma cell lines in the SEdb database39. Seven of the ten tumors with the highestTERT...
The Thoroughbred breed was formed by crossing Oriental horse breeds and British native horses and is currently used in horseracing worldwide. In this study, we constructed a single-nucleotide variant (SNV) database using data from 101 Thoroughbred racehorses. Whole genome sequencing (WGS) revealed...
variationdatadetectedwhole-genomesequencing(WGS)Japaneseindividuals.Specifically,databasecontainsvariantsdetected1,070individualswhoparticipatedgenomecohortstudyTohokuMedicalMegabankProject.firstrelease,iJGVDincludes44,300,000autosomalsinglenucleotidevariants(SNVs)whoseminorallelefrequencies45.0%.HumanGenomeVariation(...