Results 211 to 220 of about 595,057 (344)

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

Advanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin, Xiaodian Cai, Zhanming Zhong, Tingting Li, Xinyou Chen, Wondossen Ayalew, Zhiting Xu, Chen Wei, Xiaoke Zhang, Hong Cheng, Zhenyang Zhang, Xuehua Li, Yongjie Tang, Siqian Chen, Jun Zhou, Jinglei Si, Xibo Wu, Chao Ning, Qishan Wang, Yuchun Pan, Yahui Gao, Jiaqi Li, Ying Yu, Zhe Zhang, Yunxiang Zhao, Lingzhao Fang, Zhe Zhang   +26 more
wiley   +1 more source

The impact of JAK2^V617F variant allele frequency in MPN patients following PEGylated interferon alpha discontinuation. [PDF]

Br J Haematol
Brown R, Bennett R, Crean C, Hindley A, McGimpsey J, Cunningham N, Niblock A, McPherson S, Boyd K, Foy A, Graham C, Greenfield G, McMullin MF, Catherwood MA.   +13 more
europepmc   +1 more source

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

Relationship between the BRAF-V600E variant allele frequency and clinicopathological characteristics of papillary thyroid carcinoma and its clinical application. [PDF]

Discov Oncol
Wang S, Ding Y, Geng X, Wu W, Ju F, Yan X, Li Y, Lyu G.   +7 more
europepmc   +1 more source

A study of anti-human neutrophil antigen antibody and allele frequency in Hong Kong

, 2018
Shuk-ying Yeung
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Assessing population allele frequency differences using low-depth sequencing data. [PDF]

J R Soc N Z
Dodds KG, McEwan JC, Brauning R, Clarke SM.   +3 more
europepmc   +1 more source

Impact of molecular profile and variant allele frequency in patients with Acute Myeloid Leukemia undergoing allogeneic transplantation in first remission: A study by the pethema group [PDF]

Rafael Colmenares, Eva Barragán, Rebeca Rodriguez-Veiga, Laura Torres-Miñana, Joaquín Sánchez-García, Mar Tormo, Teresa Bernal Del Castillo, Pilar Martinez Sanchez, Eduardo Rodríguez-Arbolí, Cristina Gil, Elena Soria-Saldise, Josefina Serrano, Mercedes Colorado, María García-Fortes, Cristina Bilbao, José Luis López Lorenzo, Maria Jose Larrayoz, Esther Pérez-Santaolalla, Esperanza Lavilla-Rubira, Lorenzo Algarra, Maria Carmen García-Garay, Carmen Chillon, Melissa Torres-Ochando, Raimundo García-Boyero, Carmen Couto, Ágata Almela, Victor Noriega Concepción, Marta Callejas, Manuel Barrios García, Soledad Casado, Amaia Balerdi Malcorra, Ana Cabello, Jorge Labrador, María Carmen Mateos, María Luz Amigo, Manuel Pérez-Encinas, Maria Jose Garcia, Lisette Costilla-Barriga, Juan Miguel Bergua Burgues, Gonzalo Carreño, Joaquin Martinez-Lopez, Rosa Ayala Diaz, Pau Montesinos   +42 more
openalex   +1 more source

Mendelian Randomization and Double Machine Learning Modeling Reveal Brain Imaging‐Derived Phenotypes as Functional Contributors to 18 Autoimmune Inflammatory Diseases

Advanced Science, EarlyView.
This schematic integrates the eight statistically significant causal relationships identified between 1,366 brain imaging‐derived phenotypes (IDPs) and 18 autoimmune inflammatory diseases (AIDs). Arrows indicate the direction of causality inferred from bidirectional two‐sample MR analyses.
Jinbin Chen, Xin Wang, Haifeng Ding, Bosheng Zheng, Keni Zeng, Chuying Hu, Jiayi Liu, Xiao Zhu, Haibing Yu   +8 more
wiley   +1 more source

TP53-mutant variant allele frequency and cytogenetics determine prognostic groups in MDS/AML for transplantation. [PDF]

Blood Adv
Lontos K, Saliba RM, Kanagal-Shamanna R, Özcan G, Ramdial J, Chen G, Kadia T, Short NJ, Daver NG, Kantarjian H, Marin D, Kebriaei P, Popat U, Champlin R, Shpall E, Oran B.   +15 more
europepmc   +1 more source