Tag: PGS

doi: 10.2217/pgs-2023-0029. Online ahead of print. Abdullah Alsulaiman  1 , Hoyin Chu  2   3 , Mohammed Al-Jumaan  1 , Mohammed Alyahya  1 , Yousef Al Marzooq  1 , Fatmah Almulhim  1 , Chittibabu Vatte  1 , Areej Alnimer  1 , Afnan Almuhanna  1 , Amein Al-Ali  1 , Saud H AlDubayan  2   3   4   5 Affiliations…

Introduction Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease, mainly characterised by symmetrical pain and swelling of small joints in the hands and the feet.1 When chronic inflammation is not properly controlled over a long period of time, it can eventually lead to irreversible damage to the joint structures….

Samples This study was based on the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) sample37, a population-based case-cohort design to study the genetic and environmental factors associated with severe mental disorders. The iPSYCH2012 sample is nested within the entire Danish population born between 1981 and 2005 (N = 1,472,762). In total,…

Manual Polygenic Risk Score calculation 1 Hi all, I am attempted to calculate PRS manually, and I’m very close to to obtaining a score. To recap what has been done, I have a patients individual in which I annotated their VCF with RSIDs. From there, I went to PGS catalog…

Study cohort description We used data on a total of 172,270 individuals of Japanese and East Asian ancestry. Of these, data on 165,098 individuals were obtained from BBJ, which has enrolled ≥200,000 participants to date. BBJ is a multi-institutional hospital-based genome cohort that collected participants affected with at least one…

Animals and sample preparation Animal experiments were performed as previously described12. C57BL/6J WT mice or ob/ob mice at ten weeks of age were purchased from Japan SLC Inc. (Shizuoka, Japan). The phenotypic data of the mice are summarized in Table S1. Animal experiments were approved by the animal ethics committee…

Liau Y et al. Pharmacogenomics. 2019 Sep; 20(14):1033-1047 doi.org/10.2217/pgs-2019-0080PMID: 31559921 Show Details AbstractAuthors Aim: Long read sequencing offers the promise of overcoming some of the challenges in accurate genotyping of complex genes, along with the advantage of straightforward variant phasing. We have established methods for sequencing and haplotyping of the…

Introduction The use of drugs should be different among diverse ethnic groups because of differences in ethnicity, age, sex, environmental factors and genetic factors. If these differences are ignored, then drug sensitivity, metabolic rate, and adverse reactions are affected, which influences the curative effect of drugs and aggravates the illness…

Hi everyone! We experienced a problem that our team had not encountered for almost 10 years of working with the MiSeq platform. We ran a 24-sample VeriSeq PGS library on MiSeq. On the next day when the data was expected to be generated, we noticed that the run had stopped…

PRS from a dataset on which the GWAS is based on 0 I am using the PRSice tool to calculate PRS scores for a dataset (d1) using a set of weights from the PGS catalog. Although the weights were generated from a different cohort (d2), it appears that the original…

PRS using PGS Catalog 1 When using PRSice for PRS calculation of target data using a file of variants from the PGS catalog, does the variant file from the PGS catalog replace the GWAS summary statistics (referred to as “base data” in the tutorial)? I had previously found this similar…

PRSice-2 without Ref SNP ID 1 Does PRSice-2 support a base tile that has chromosome number/name and chromosome position instead of reference SNP ID in the base file? I’m trying to calculate PRS scores using a weights file from the PGS catalog with ~6 million variants. The file has only…