Results 191 to 200 of about 37,179 (261)

Establishment of the endocrine variant extractor and its clinical application in identifying a novel <i>GATA3</i> mutation in HDR syndrome. [PDF]

Front Endocrinol (Lausanne)
Han Y, Song D, Noh M, Kang M, Eom YS, Lee H, Lee S.   +6 more
europepmc   +1 more source

A Guide to Enzymatic Targeted Methylation Sequencing Bioinformatics Workflow: Best Practices

Current Protocols, Volume 6, Issue 10, October 2026.
Abstract We present a best‐practices protocol for targeted DNA methylation sequencing analysis that integrates both bisulfite‐ and enzymatic‐conversion approaches using Twist Bioscience technology. Building on established tools and vendor‐recommended workflows, this protocol provides a standardized, fully reproducible framework that addresses current ...
Vitória Rodrigues Guimarães Alves, Sheila T. Nagamatsu, Vanessa Kiyomi Ota, Cibele Edom Bandeira, Janitza L. Montalvo‐Ortiz, Danilo Micali, Ana Carolina Coelho Milani, Ivaldo Silva, Cristiane Seixas Duarte, Andrea Parolin Jackowski, Jonathan Posner, Carolina Muniz Carvalho, Sintia Iole Belangero   +12 more
wiley   +1 more source

Automated reanalysis of genomic data for rare disease diagnostics at scale. [PDF]

Nat Med
Welland MJ, Ahlquist KD, De Fazio P, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O'Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J, Samocha KE, Simons C, MacArthur DG, Stark Z.   +36 more
europepmc   +1 more source

Integrative characterization of human hepatocellular carcinoma‐derived organoids and their HBV‐associated biology

Clinical and Translational Medicine, Volume 16, Issue 10, October 2026.
20 HCC‐derived organoids, three adjacent non‐tumour tissue‐derived organoids, and 12 HCC‐derived cell lines from 20 patients were established and biobanked. Integrative analyses combining drug screening, whole‐exome sequencing, and RNA sequencing revealed molecular subtypes and identified candidate determinants of lenvatinib response.
Seo‐Hyeon Kim, YoungRok Choi, Eun Woo Choi, Se Hui Kim, Seung Cheol Oh, Jae Yoon Kim, Su young Hong, Suk Kyun Hong, Kwang‐Woong Lee, Ja‐Lok Ku   +9 more
wiley   +1 more source

ChoCallate: a computational pipeline for consensus germline variant calling in genomic sequencing data. [PDF]

PeerJ
Ermolaev A, Divashuk M.
europepmc   +1 more source

Whole‐Genome Resequencing Reveals the Genetic Diversity and Adaptive Evolution of Rhabdophis nuchalis

Ecology and Evolution, Volume 16, Issue 10, October 2026.
Rhabdophis nuchalis populations from four regions were analyzed using genome resequencing. The results showed that the Sichuan and Yunnan populations formed one cluster, while the Hubei and Shaanxi populations formed another. The Yunnan population displayed the highest genetic diversity.
Fei Wu, Jiu‐Yan Jiang, Ping‐Wei Liang, Ji Chen, Lin‐Ping Fan, Xia Zhou, Ji Wang, Ming‐Wen Duan, Yu‐Qi Cheng, Guang‐Xiang Zhu   +9 more
wiley   +1 more source

A Global Assessment of the Transcription-Dependent Single Nucleotide Variants Relies on the Characteristics of RNA-Sequencing Technologies. [PDF]

Biomolecules
Zhang X, Liu J, Zhu Y, Hou G, Bai M, Li Y, Cui W, Liu S.   +7 more
europepmc   +1 more source

Responses of Antarctic seabird populations to past climate change

Ecography, Volume 2026, Issue 10, October 2026.
Higher‐order predators such as Antarctic seabirds serve as ecological indicators of environmental change and provide a crucial trophic link between marine and terrestrial ecosystems. Despite their prevalence and significance in the Antarctic ecosystem, there is a lack of understanding of the impacts of major regime shifts in paleoclimate on flighted ...
Elize Y. X. Ng, Louise Emmerson, Barbara Wienecke, Fabiola León Miranda, Colin Southwell, Juliana A. Vianna, Christopher P. Burridge   +6 more
wiley   +1 more source

HBV biomarkers outperform host genetic variants in distinguishing occult HBV infection from chronic carriers. [PDF]

iScience
Zhou L, Yan Y, Ji H, Sun H, Lu Z, Chang L, Wang L.   +6 more
europepmc   +1 more source

One cycle of nelarabine given after induction is well tolerated but does not improve outcome in adults with T‐cell precursor acute lymphoblastic leukemia: Outcome data from the UKALL14 randomized‐controlled trial

HemaSphere, Volume 10, Issue 10, October 2026.
Abstract UKALL14 (NCT01085617) T‐cell arm was a phase 3, randomized‐controlled trial. Adults aged 25–65 years were randomized 1:1 at entry to receive standard of care (SOC) or SOC + nelarabine 1.5 g/m2 (Days 1, 3, and 5) to be administered following second induction. The primary end‐point was event‐free survival (EFS).
Clare J. Rowntree, Amy A. Kirkwood, Nadine Farah, Emma Lawrie, David I. Marks, Andrew K. McMillan, Tobias F. Menne, Anthony V. Moorman, Bela Patel, Pip Patrick, Paul Smith, Krisztina Z. Alapi, Lingyi Wang, Marc R. Mansour, Adele K. Fielding   +14 more
wiley   +1 more source