Results 171 to 180 of about 183,970 (268)

MAF Family Protein [PDF]

, 2020
openaire   +1 more source

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman, Alexander Gibbs, Patrick Lombard, Natalie J. Chandler   +6 more
wiley   +1 more source

Yam genetic diversity in Sub-Saharan Africa: implications for conservation and breeding. [PDF]

BMC Plant Biol
Messadia A, Agre P, Darkwa K, Adjei EA, Dibi KEB, Bakayoko L, Pokou DN, Dansi A, Michel AK, Adejumobi I, Adewumi A, Obidiegwu J, Mushoriwa H, Morufat B, Olaniyan AB, Asfaw A.   +15 more
europepmc   +1 more source

Transcription Factor Maf [PDF]

, 2020
openaire   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Mapping rare protein-coding variants on multi-organ imaging traits. [PDF]

Nat Commun
Fan Y, Chen J, Fan Z, Chirinos J, Stein JL, Sullivan PF, Wang R, Nadig A, Zhang DY, Huang S, Jiang Z, Guan PY, Qian X, Li T, Li H, Sun Z, Ritchie MD, O'Brien JM, Witschey W, Rader DJ, Li T, Zhu H, Zhao B.   +22 more
europepmc   +1 more source

Genomic structure and ex situ conservation of the North American grapevine Vitis labrusca

PLANTS, PEOPLE, PLANET, EarlyView.
The North American wild grapevine species Vitis labrusca is an important source of disease resistance and climate resilience traits for breeding new grapevine cultivars. To ensure its continued use in breeding, V. labrusca must be accurately identified and genetically diverse material must be conserved.
Zoë Migicovsky, Clay Elzinga, Mia C. Lauzon, Thomas Connor, Kylie DeViller, Claire Dinn, Grace M. Earle, Emma Hockley, Olivia Lennon, Lillian A. Ricker, Peter M. Roberts, Katrina M. Robinson, Aditi Sharma, Paris N. Spencer, Sammy Stockdale, Liam L. Tingley, Annelies Yates, Jason P. Londo, Peter Cousins   +18 more
wiley   +1 more source

Endoscopic ultrasound molecular evaluation of pancreatic cancer trial to profile molecular landscape of inoperable pancreatic ductal adenocarcinoma. [PDF]

Endosc Int Open
McKay O, Lundy J, Bell S, Ha P, Gao H, Jenkins B, Bulathsinghalage C, Swan M, Hew S, Lee B, Dorwal P, Bhutani MS, Rathi V, Grimmond S, Perry A, Wilson T, Strickland A, Zalcberg J, Croagh D.   +18 more
europepmc   +1 more source

Evolving resistance patterns in Tetranychus urticae and Bemisia tabaci in Greece

Pest Management Science, EarlyView.
Greek populations of T. urticae and B. tabaci exhibit evolving multi‐resistance, confirmed by bioassays and molecular markers, highlighting the urgent need for evidence‐based resistance monitoring in IPM. Abstract BACKGROUND Pesticide resistance in agricultural pests remains a major barrier to effective and sustainable crop protection.
Anastasia Kampouraki, Aris Ilias, Kiriaki‐Maria Papapostolou, Styliani Malliaraki, Ioannis Pirgianakis, Evangelia Karakosta, John Vontas, Anastasia Tsagkarakou, Konstantinos Mavridis   +8 more
wiley   +1 more source

Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data. [PDF]

Commun Biol
Kang JO, Kwon SY, Jung HU, Jung H, Lim JE, Oh B.   +5 more
europepmc   +1 more source