Results 91 to 100 of about 295,678 (328)
NGS Based Haplotype Assembly Using Matrix Completion
, 2019 We apply matrix completion methods for haplotype assembly from NGS reads to develop the new HapSVT, HapNuc, and HapOPT algorithms. This is performed by applying a mathematical model to convert the reads to an incomplete matrix and estimating unknown ...
Kahaei, MH, Majidian, Sina
core +1 more source
Advanced Science, EarlyView.Genomic data offer a powerful tool for studying the molecular interactions between parasites and their hosts, but they remain scarce for parasitic monogenean flatworms. This study presents the first high‐quality phased genome assembly for monogeneans (Gyrodactylus kobayashii), and uses it to predict key interacting proteins between monogenean parasite ‐
Dong Zhang +17 more
wiley +1 more source
Neuropsychiatric Disease and Treatment, 2021 Takaki Tanifuji,1 Satoshi Okazaki,1 Ikuo Otsuka,1 Tadasu Horai,1 Yutaka Shinko,1 Saehyeon Kim,1 Ichiro Sora,1 Akitoyo Hishimoto1,2 1Department of Psychiatry, Kobe University Graduate School of Medicine, Kobe, Japan; 2Department of Psychiatry, Yokohama ...
Tanifuji T +7 more
doaj
Animal, 2009 Lysozyme, an anti-bacterial enzyme, is mostly found in the body fluids, various tissues and secretions of animals and humans, and confers immunity against a wide range of bacterial species. The present study was carried out to elucidate the gene sequence
M. Salehin +3 more
doaj +1 more source
Advanced Science, EarlyView.The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang +16 more
wiley +1 more source
A Random Forests Framework for Modeling Haplotypes as Mosaics of Reference Haplotypes
Frontiers in Genetics, 2019 Many genomic data analyses such as phasing, genotype imputation, or local ancestry inference share a common core task: matching pairs of haplotypes at any position along the chromosome, thereby inferring a target haplotype as a succession of pieces from reference haplotypes, commonly called a mosaic of reference haplotypes.
Faux, Pierre, Geurts, Pierre, Druet, Tom
openaire +5 more sources
American Journal of Hematology, EarlyView.ABSTRACT Given the dismal prognosis for patients with TP53‐mutated acute myeloid leukemia (AML), the optimal donor for those undergoing allogeneic hematopoietic cell transplantation (allo‐HCT) remains unclear. We retrospectively analyzed adult patients with TP53‐mutated AML who underwent first allo‐HCT in CR1 between 2010 and 2021.
Yuhua Ru +13 more
wiley +1 more source
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source