Results 91 to 100 of about 37,179 (261)

Dihydropyrimidine Dehydrogenase Genotype–Phenotype Correlations in Plasma and Peripheral Blood Mononuclear Cells

Clinical Pharmacology &Therapeutics, EarlyView.
The chemotherapeutic 5‐fluorouracil (5‐FU) is commonly used to treat solid tumors, especially colorectal cancer. Deleterious variants in DPYD, which encodes dihydropyrimidine dehydrogenase (DPD), are strongly associated with severe and potentially lethal 5‐FU toxicity.
Brianna M. Bembenek, Seid Hamzic, Kelly J. Bouchonville, Carlo R. Largiadèr, Steven M. Offer   +4 more
wiley   +1 more source

What can we infer about mutation calling by using time‐series mutation accumulation data and a Bayesian Mutation Finder?

Ecology and Evolution
Accurate estimates of mutation rates derived from genome‐wide mutation accumulation (MA) data are fundamental to understanding basic evolutionary processes. The rapidly improving high‐throughput sequencing technologies provide unprecedented opportunities
Takahiro Maruki, April Ozere, Jack Freeman, Melania E. Cristescu   +3 more
doaj   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Strategies for whole-exome sequencing analysis in a case series study of familial male infertility

International Journal of Reproductive BioMedicine, 2020
Background: Infertility is one of the common health issues around the world. The prevalence of male factor infertility among infertile couples is approximately 30%-35%, of which genetic factors account for 15%.
Masomeh Askari, Dor Mohammad Kordi Tamandani, Navid Almadani, Mehdi Totonch   +3 more
doaj   +1 more source

Infection mechanisms of Rhizoctonia cerealis in wheat

iMeta, EarlyView.
We discover that R. cerealis (Rc) is a primary pathogen causing sharp eyespot of wheat after 335 distinct isolates were isolated from 1683 SE‐diseased wheat plants across China over 7 years using a single hyphal tip isolation method. We then generated high‐quality reference genomes via de novo sequencing of five representative Rc isolates and ...
Yan Ren, Ti Liu, Heying Zhao, Qirun Qian, Lufei Cui, Zhipeng Sun, Wenkai Yang, Peng Guo, Sisheng Wang, Lingran Zhang, Congwei Sun, Aolin Jia, Ning Zhang, Feng Chen   +13 more
wiley   +1 more source

BWA-MEM2+Dragen-GATK reproducibility performance comparison: Numbers of true positive and false positive, precision, and recall of SNVs/indels.

, 2023
BWA-MEM2+Dragen-GATK reproducibility performance comparison: Numbers of true positive and false positive, precision, and recall of SNVs/indels.
Heba Abusamra (16748151), Nofe Alganmi (16748148)   +1 more
core   +1 more source

Decoding the Gut‐Brain Axis: Multi‐Omics Reveals a Causal Chain Linking Human Genome, Gut Microbiota, Blood Metabolites, and Alertness in the Brain

Med Research, EarlyView.
This multi‐omics study identified genetic loci, gut microbiota, blood metabolites, and gray matter volumes of orbitofrontal cortex and cerebellum that were potentially relevant to alerting in healthy Chinese adults. Subsequent two‐step one‐sample Mendelian randomization further revealed a serial mediation pathway: Bacteroides intestinalis influences ...
Hongru Li, Chuansheng Chen, Ofir Turel, Yu Pu, Hong Chen, Tingyong Feng, Jiang Qiu, Xu Lei, Qinghua He   +8 more
wiley   +1 more source

Fast and accurate short-read alignment with hybrid hash-tree data structure

Genomics & Informatics
Rapidly increasing the amount of short-read data generated by NGSs (new-generation sequencers) calls for the development of fast and accurate read alignment programs.
Junichiro Makino, Toshikazu Ebisuzaki, Ryutaro Himeno, Yoshihide Hayashizaki   +3 more
doaj   +1 more source

Comparative analysis of the chicken IFITM locus by targeted genome sequencing reveals evolution of the locus and positive selection in IFITM1 and IFITM3

BMC Genomics, 2019
Background The interferon-induced transmembrane (IFITM) protein family comprises a class of restriction factors widely characterised in humans for their potent antiviral activity.
Irene Bassano, Swee Hoe Ong, Maximo Sanz-Hernandez, Michal Vinkler, Adebabay Kebede, Olivier Hanotte, Ebele Onuigbo, Mark Fife, Paul Kellam   +8 more
doaj   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source