Results 201 to 210 of about 37,179 (261)

ML-ExonCNV: a robust XGBoost multi-expert ensemble framework for rare exon CNV detection in whole-exome sequencing data. [PDF]

Brief Bioinform
Yang SH, He H, Hou S, Yang T, Yin Z, Zhang HY, Gu W.   +6 more
europepmc   +1 more source

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A heterozygous de novo GABBR2 variant was identified in a girl with clinical classical Rett syndrome. Comparison with previously reported cases suggests that GABBR2 variants should be considered in the genetic evaluation of individuals with MECP2‐negative Rett syndrome.
Jenny Klintenstedt, Peter Baeck, Ingegerd Witt Engerström, Cecilia Gunnarsson   +3 more
wiley   +1 more source

MitoGEx: An Integrated Platform for Streamlined Human Mitochondrial Genome Analysis. [PDF]

Genes (Basel)
Jeenkeawpiam K, Srifa P, Nokchan N, Khongcharoen N, Binkasem A, Sangkhathat S.   +5 more
europepmc   +1 more source

Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We describe likely pathogenic missense variants causing congenital cataract and investigate these variants using high‐throughput gene sequencing, Sanger sequencing, bioinformatics, and computational biology tools. Our findings provide novel insights into the molecular diagnosis of congenital cataract and have important implications for genetic ...
Yazhou Huang, Xinwei Leng, Jibo Zhang, Xingxin Fang, Ting He, Lihua Zhou, Zhenkai Wu, Yuankun Wang, Dan Peng   +8 more
wiley   +1 more source

Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data. [PDF]

Bioinformatics
Byun SY, Bansal V.
europepmc   +1 more source

Genome Analysis of Corynebacterium ulcerans Isolates Chronologically Recovered From the Same Cat for Two Years: Circulation in a Cat Shelter

Microbiology and Immunology, Volume 70, Issue 10, Page 525-531, October 2026.
ABSTRACT Toxigenic Corynebacterium ulcerans, a zoonotic pathogen, was isolated repeatedly from a cat in an in‐house group in Japan. Although the cat was cured once by antibiotic treatment, clonal isolates of the original pathogenic strain were recovered repeatedly during a 2‐year course.
Ryoko Jikihara, Miyuki Kimura, Hyun Kim, Tsuyoshi Sekizuka, Masatomo Morita, Makoto Kuroda, Akihiko Yamamoto, Mitsutoshi Senoh, Masaaki Iwaki   +8 more
wiley   +1 more source

Millennial clonal persistence and transposable element-biased somatic mutations in an herbaceous plant (Typha latifolia). [PDF]

Commun Biol
Zhao C, Wang Z, Zeng H, Yao Y, Yu D, Xu X.   +5 more
europepmc   +1 more source

Chronic Cigarette Smoke Extract Exposure Promotes Genomic and Phenotypic Reprogramming in Lung Cancer Cells

Thoracic Cancer, Volume 17, Issue 19, October 2026.
Chronic cigarette smoke extract exposure promoted genomic and phenotypic reprogramming in established lung cancer cells. Clonogenicity, migration, and tumor growth increased, accompanied by changes consistent with partial epithelial–mesenchymal transition. Transcriptomic analysis and whole‐genome sequencing revealed activation of inflammatory signaling,
Hyun Soo Kim, Se‐Eun Choi, In Kyoung Kim, Seulbee Lee, Seo‐Hee You, Rachel Hyunkyung Kim, Chang Dong Yeo, Jin‐A Kim, Seok Chung, Sang Haak Lee, Semin Lee, Hye Joung Kim   +11 more
wiley   +1 more source

Germline Variant Call Accuracy in Whole Genome Sequence Data from Canine Formalin-Fixed Paraffin-Embedded Tissue Samples. [PDF]

Genes (Basel)
Jagannathan V, Leeb T.
europepmc   +1 more source

A Three‐Dimensional Culture–Drug Sensitivity Test Predicts MDM2 Inhibitor–Sensitivity in SMARCB1/INI1‐Deficient Tumors

Cancer Science, Volume 117, Issue 10, Page 2852-2862, October 2026.
This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto, Chiyoko Nishime, Takashi Ohtsu, Mieko Ito, Maiko Sagisaka, Takuya Naruto, Norihiko Kitagawa, Mio Tanaka, Masakatsu Yanagimachi, Yukihiko Hiroshima, Junko Takita, Yasuhide Hayashi, Yohei Miyagi   +12 more
wiley   +1 more source