Georgi Hudjashov

Detecting CYP2C19 deletions from genotyping array signals using neural networks

Burak Yelmen, Robin J. Hofmeister, Viido Kaur Lutsar, Marc Finianos et autres

Abstract Since copy number variations (CNVs) in pharmacogenes can cause significant alterations in drug metabolism, their reliable detection is of high importance both for large-scale studies and personalized medicine. Whole-genome sequencing, and specifically long-read sequencing, is the gold standard for CNV detection. …

ee (code pays fourni par la source)

Translational genomics of osteoarthritis in 1,962,069 individuals

Cecilie Henkel, Aris Baras, Kathleen A. Ryan, Kari Stefansson et autres

us (code pays fourni par la source)

ADVANCING GENOTYPE IMPUTATION IN ANCIENT GENOMES USING A REGION-SPECIFIC REFERENCE PANEL AND BENCHMARK GENOTYPES

Erkin Alaçamlı, Stefania Sasso, Roberto Didonna, Simone Andrea Biagini et autres

Abstract Background Ancient DNA datasets are often characterized by low coverage and high levels of missing data, which limit the use of diploid-based analyses and constrain population genetic inference. Although genotype imputation is increasingly used to overcome these limitations, its performance depends …

ee, cz, be (code pays fourni par la source)

Parental haplotype reconstruction in up to 440,209 UK and Estonian individuals reveals recent assortative mating dynamics

Robin J. Hofmeister, Davide Marnetto, Théo Cavinato, Leona Knüsel et autres

Abstract Assortative mating (AM), the tendency to choose partners with similar traits, contributes to the genetic architecture of human traits. Detecting its genetic footprint (genetic AM) requires either genotyped couples or detection of gametic phase disequilibrium (which is insensitive to recent changes). …

ch, ee, it (code pays fourni par la source)

Side effects in hypertension treatment: a pharmacogenomic analysis

Felix C. Vaura, Kristi Krebs, Tuomo Kiiskinen, Joel T Rämö et autres

BACKGROUND AND AIMS: Up to half of patients switch or discontinue antihypertensive medications within the first year, but underlying mechanisms remain elusive. This study aimed to identify genetic predictors of antihypertensive medication use trajectories within the first year. METHODS: Using longitudinal medication …

fi, jp, ee, us (code pays fourni par la source)

Publisher Correction: Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction

Fei-Fei Cheng, Xiaoxi Liu, Hao Mi, Lizhong Wang et autres

In the version of the article initially published, the 23andMe Research Team was missing from the online author list. The HTML version of the article has now been amended.

au, cn, jp, kr, us, ee, th (code pays fourni par la source)

Publisher Correction: Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting

Marlena Fejzo, Xinran Wang, Qing Tan, Julia Zöllner et autres

us, gb, ee, au, no, cn (code pays fourni par la source)

Genetics of cannabis ever-use and frequency across ancestries implicate novel loci and brain-specific biology

Joëlle A. Pasman, Zachary F Gerring, Jackson G. Thorp, Abdel Abdellaoui et autres

Abstract Cannabis use is widespread, with genetic differences partly explaining variation in individual patterns of use. We performed the largest-to-date genome-wide association study (GWAS) meta-analysis of cannabis ever-use (N=736,322, 76% European ancestry) and various measures of frequency of use (N=269,160 cannabis users, …

nl (code pays fourni par la source)

Author Correction: HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases

Guillaume Butler-Laporte, Joseph Farjoun, Tomoko MAKINO NAKANISHI, Tianyuan Lu et autres

In this article the author name ‘Julian D. S. Willett’ was incorrectly written as ‘Julian D. S. Willet’. The original article has been corrected.

gb, ca, jp, ee, se (code pays fourni par la source)

Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting

Marlena Fejzo, Xinran Wang, Qing Tan, Julia Zöllner et autres

Most pregnancies are affected by nausea and vomiting, but the most severe form-hyperemesis gravidarum-can be life threatening. Here we performed a multi-ancestry genome-wide association study of hyperemesis gravidarum in 10,974 cases and 461,461 controls across European, Asian, African and Latino ancestries. We …

us, gb, ee, au, no, cn (code pays fourni par la source)

Unraveling genotype–phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis

Miriam Nurm, Tarmo Annilo, Sebastian May-Wilson, Anu Reigo et autres

BACKGROUND: Type I hereditary hemochromatosis (HH), caused by pathogenic HFE variants, is among the most common autosomal recessive disorders in Northern Europe. HH genotype–phenotype associations have been difficult to predict due to variable variant penetrance and expressivity. In this study, population-based biobank …

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Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6

Kristi Krebs, Laura Birgit Luitva, Anette Caroline Kõre, Raul Kokasaar et autres

Abstract CYP2C19 and CYP2D6 are involved in the hepatic metabolism of approximately 35–40% of clinically used drugs. We conducted an in vivo phenotyping study encompassing 114 Estonian Biobank participants to evaluate the functional impact of rare or novel single-nucleotide and structural variants …

ee, no, cn, se, de (code pays fourni par la source)