Accuracy of non-reference allele frequency estimation at HapMap/58C intersection variants for the Pool of 50 after duplicate removal.Aaron, G. DayWilliamsKirsten, McLayEleanor, DrurySarah, EdkinsAlison, J. CoffeyAarno, PalotieEleftheria, Zeggini...
The commercial DNA CEPH 1347–02 (Life Technologies Europe, Zug, Switzerland) was used as positive control of amplification and internal standard for allele designations. For standard PCR reactions (28–30 cycles) 0.5 ng of commercial reference DNA was used, for all PCR reactions with increased ...
Genotypes from the two platforms were separately phased and imputed into the Haplotype Reference Consortium (release 1.1) through the Sanger Imputation Service before merging. Genotypes from a total of 10,346 samples (including 3320 DZ twin pairs and 7026 unrelated individuals) passed quality control,...
Age, gender educational level, smoking, and drinking habits, fish intake and exercise frequency were self-reported, with the electronic medical record system as a reference. According to the years of education, educational status was defined as low (< 8 years), medium (8–11 years), as ...
2010). Two accessions of pearl millet, PI517021 and PI532750, were obtained from Plant Genetic Resources Conservation Unit, USDA-ARS to act as susceptible reference. A collection of 153 accessions of rice (Oryza sativa L.) was obtained from The International Rice Research Institute (IRRI). ...
Model organisms like human and cattle benefit from high-quality reference genomes and panels of reference genotypes that aid in imputation accuracy. In nonmodel organisms, however, genetic and physical maps often are either of poor quality or are completely absent, and there are no panels of ...
(Fig.1a and Table1). To discover somatic alterations in the SweGBM-1 cohort, matched tumor/normal pairs (n = 39) were sequenced using Illumina whole-genome sequencing. Alignment of the sequencing reads to the reference assembly hg19 [17] yielded depths of coverage of median 75× (...
Nonnested models are sometimes tested using a simulated reference distribution for the uncentred log likelihood ratio statistic. This approach has been recommended for the specific problem of testing linear and logarithmic regression models. The general asymptotic validity of the reference distribution test...
et al. GENCODE reference annotation for the human and mouse genomes. Nucleic Acids Res. 47, D766–D773 (2019). CAS PubMed Google Scholar Sondka, Z. et al. The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers. Nat. Rev. Cancer 18, 696 (2018). CAS ...
The NAFL variants include a low-frequency (minor allele frequency (MAF) = 2.96%) missense variant, p.Cys325Gly, inAPOH(encoding β2-glycoprotein 1) (P = 4.0 × 10−9, effect = 0.13 s.d. for PDFF andP = 0.02, OR = 1.11 for NAFL).APOHis highly ...