pbcftools: parallel execution of bcftools for large variant call sets
pbcftools parallelizes bcftools commands for variant call sets, improving speed without sacrificing accuracy across multiple platforms and core counts.
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Cincinnati Children's Hospital Medical CenterORCID 0000-0002-0543-2254Unclaimed ORCID profile · follow to get notified of new preprints
7 papers
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pbcftools parallelizes bcftools commands for variant call sets, improving speed without sacrificing accuracy across multiple platforms and core counts.
Amit Kumar Srivastava, Julius Juodakis, Pol Solé-Navais…·Ge Zhang
The paper introduces a haplotype-based method to estimate maternal and fetal genetic contributions to pregnancy outcomes, finding that gestational duration is mainly influenced by maternal haplotypes while fetal size is influenced by both maternal and paternal haplotypes.
Mihaela Pavličev, Caitlin E. McDonough-Goldstein, Andreja Moset Zupan…·Louis J. Muglia
This study identifies a SNP that affects Wnt4 expression in endometrial stroma, linking it to pregnancy, endometriosis, and reproductive cancers through differential gene regulation.
Jing Chen, Pol Solé-Navais, Huan Ying Xu…·Ge Zhang
This study uses Mendelian Randomization to show that higher maternal CRP levels causally reduce gestational duration and birth weight, with some effect mediated through gestational age.
Noboru J. Sakabe, Ivy Aneas, Nicholas Knoblauch…·Marcelo A. Nóbrega
The paper integrates GWAS data with functional genomic annotations of decidual stromal cells to identify loci and target genes associated with gestational duration and preterm birth.
Jing Chen, Jonas Bačelis, Pol Solé-Navais…·Ge Zhang
The paper uses haplotype genetic scores in mother/infant pairs to show maternal and fetal genetic effects influence gestational duration, birth outcomes, and adult phenotypes.
Xueping Liu, Dorte Helenius, Line Skotte…·Bjarke Feenstra
This study identifies a fetal genome-wide association signal near pro-inflammatory cytokine genes on 2q13 linked to gestational duration and preterm/postterm birth.