sequencing (wgs) data (WholeGenome LLC)
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sequencing (wgs) data
Sequencing (Wgs) Data, supplied by WholeGenome LLC, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/wgs+sequencing+data/sequencing++wgs++data/pm29912358-176-35-35
Average 90 stars, based on 1 article reviews
Sequencing (Wgs) Data, supplied by WholeGenome LLC, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/wgs+sequencing+data/sequencing++wgs++data/pm29912358-176-35-35
Average 90 stars, based on 1 article reviews
sequencing (wgs) data - by Bioz Stars,
2026-10
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other:Article Title: Identifying differentially methylated sites in samples with varying tumor purity. Article Snippet: 3.2.3 Comparing purity estimates To validate the accuracy of our purity estimates, we compared our method with ASCAT (Van Loo et al., 2010) and ABSOLUTE (Carter et al., 2012), which estimate the Article Title: Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging Article Snippet: Results: Focusing on potentially functional variants, we discovered a single variant (rs10149146) that lies on the autophagy-associated TECPR2 gene and was carried by 53.6% of the “healthy” brain elderly individuals (15/28).. An additional nonsynonymous variant on the CINP gene (encoding a cell cycle checkpoint protein) was also found in 46% of healthy controls.. Both variants are absent from all AD cases. Article Title: Genomic Prediction Using Imputed Whole-Genome Sequence Data in Australian Angus Cattle. Article Snippet: Article Title: Deletion Detection Method Using the Distribution of Insert Size and a Precise Alignment Strategy Article Snippet: Homozygous and heterozygous deletions commonly exist in the human genome.. For current structural variation detection tools, it is significant to determine whether a deletion is homozygous or heterozygous.. However, the problems of sequencing errors, micro-homologies, and micro-insertions prohibit common alignment tools from identifying accurate breakpoint locations, and often result in detecting false structural variations. Article Title: Emergence of new variants of antibiotic resistance genomic islands among multidrug-resistant Salmonella enterica in poultry. Article Snippet: Non-typhoidal Salmonella enterica (NTS) are diverse and important bacterial pathogens consisting of more than 2600 different serovars, with varying hostspecificity.. Here, we characterized the poultryassociated serovars in Israel, analysed their resistome and illuminated the molecular mechanisms underlying common multidrug resistance (MDR) patterns.. We show that at least four serovars including Infantis, Muenchen, Newport and Virchow present a strong epidemiological association between their temporal trends in poultry and humans. Article Title: Detection of selection signatures in South African Mutton Merino sheep using whole-genome sequencing data. Article Snippet: Animal Genetics.. 2022;53:224–229. wileyonlinelibrary.com/journal/age The Merino, a finewool sheep breed, can be traced back to the late Middle Ages, and was spread to European countries during the 18th century and then to South Africa, Australia, North America, and Argentina in 19th century (DiezTascón et al., 2000).. Merino and their derived breeds have played a critical role in the production of highquality wool (Ciani et al., 2015). Sequencing:Article Title: Identification of a recurrent fusion NUP98-RARG in acute myeloid leukaemia resembling acute promyelocytic leukaemia. Article Snippet: Acute promyelocytic leukaemia (APL) is a distinctive acute myeloid leukaemia (AML) subtype, which is triggered by a PML– RARA fusion caused by t(15,17)(q24;q21) translocation; the PML– RARA fusion has been proved to be a typical genetic marker in about 95% of the cases ofAPL.1 Recently, more and more cases of a morphology resembling APL carrying RARG fusions (NUP98– RARG, PML– RARG, CPSF6– RARG, NPM1– RARG– NPM1 and HNRNPC– RARG) without RARA rearrangements have been reported.2– 6 RARG (retinoic acid receptor γ), whose gene is located at chromosome 12q13, belongs to the RAR family, and acts as one of the retinoic acid receptors, and is highly homologous (90%) with RARA (retinoic acid receptor α) and RARB (retinoic acid receptor β).7 RARAassociated fusions are known to be associated with APL or atypical APL, but RARG fusions are rare.. Such et al. reported the first case carrying a NUP98– RARG fusion with the absence of NUP98– RARA in a 35yearold male APLlike patient in 2011.2 NUP98 (the nucleoporin 98 gene) located at chromosome 11p15, has a variety of different partner genes that are involved in several kinds of haematopoietic malignancies.8 In the chimaeric protein, the Nterminal GLFG (for Gly– Leu– Phe– Gly) repeats of the NUP98 protein are fused inframe to the DNA binding domain (DBD) and the ligand binding domain (LBD) of RARG, which may interfere with the differentiation of haematopoietic precursors and clonal evolution.8 Here we report two further cases of AML, morphologically and immunophenotypically resembling APL, with the recurrent NUP98– RARG fusion but lacking the NUP98– RARA fusion. Article Title: Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma. Article Snippet: 1Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK | 2Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK | 3Sheffield Diagnostics Genetic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK | 4Department of Paediatric Oncology, Royal Manchester Children's Hospital, Manchester, UK | 5Department of Paediatric Histopathology, Royal Manchester Children's Hospital, Manchester, UK | 6Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK | 7Aston Medical School, Aston University, Birmingham, UK and Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK | 8Department of Pathology, The Christie NHS Foundation Trusts, Manchester, UK Whole Complete genome sequencing:Article Title: Identification of a recurrent fusion NUP98-RARG in acute myeloid leukaemia resembling acute promyelocytic leukaemia. Article Snippet: Acute promyelocytic leukaemia (APL) is a distinctive acute myeloid leukaemia (AML) subtype, which is triggered by a PML– RARA fusion caused by t(15,17)(q24;q21) translocation; the PML– RARA fusion has been proved to be a typical genetic marker in about 95% of the cases ofAPL.1 Recently, more and more cases of a morphology resembling APL carrying RARG fusions (NUP98– RARG, PML– RARG, CPSF6– RARG, NPM1– RARG– NPM1 and HNRNPC– RARG) without RARA rearrangements have been reported.2– 6 RARG (retinoic acid receptor γ), whose gene is located at chromosome 12q13, belongs to the RAR family, and acts as one of the retinoic acid receptors, and is highly homologous (90%) with RARA (retinoic acid receptor α) and RARB (retinoic acid receptor β).7 RARAassociated fusions are known to be associated with APL or atypical APL, but RARG fusions are rare.. Such et al. reported the first case carrying a NUP98– RARG fusion with the absence of NUP98– RARA in a 35yearold male APLlike patient in 2011.2 NUP98 (the nucleoporin 98 gene) located at chromosome 11p15, has a variety of different partner genes that are involved in several kinds of haematopoietic malignancies.8 In the chimaeric protein, the Nterminal GLFG (for Gly– Leu– Phe– Gly) repeats of the NUP98 protein are fused inframe to the DNA binding domain (DBD) and the ligand binding domain (LBD) of RARG, which may interfere with the differentiation of haematopoietic precursors and clonal evolution.8 Here we report two further cases of AML, morphologically and immunophenotypically resembling APL, with the recurrent NUP98– RARG fusion but lacking the NUP98– RARA fusion. |
