Results 181 to 190 of about 89,794 (315)

WGS Analysis of Staphylococcus warneri Outbreak in a Neonatal Intensive Care Unit

Xiang Zhang,1,* Yu Zhou,2,3,* Lu Fu,4,* Lu Zhou,5 Xiangjun Cheng,6 Wei Zhang,2,3 Zhongming Tan5 1Department of Infection Management, The First Affiliated Hospital with Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu ...
Zhang W, Zhou L, Tan Z, Zhang X, Fu L, Zhou Y, Cheng X   +6 more
core  

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Discovery of Novel Viruses and Common Contaminants From Unmapped DNA and RNA in Pigs and Chickens Under Different Housing Conditions. [PDF]

Anim Genet
Derks MFL, Dibbits B, Crooijmans RPMA, Lensing K.   +3 more
europepmc   +1 more source

Cure Sickle Cell Initiative recommendations on common data elements for sickle cell disease gene therapy trials. [PDF]

Blood Adv
Lanzkron S, Coleman-Cowger VH, Thompson AA, Carroll CP, Clemons T, DeBaun M, Kanter J, Malik P, Manwani D, Pierciey FJ, Walters MC, Alai S.   +11 more
europepmc   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

The implementation of whole-genome sequencing for Mycobacterium tuberculosis in Vietnam

IJTLD Open
D.T. Huong, T.M. Walker, D.T. Ha, K.T.T. Ngoc, V.N. Trung, L.T. Nam, P.T.T. Ngoc, L.T. Nguyet, N.T. Thanh, N.H. Minh, N.K. Cuong, N.V. Khiem, H.V.T. Ngoc, T.T.T. Bich, H.N. Hong, P.P. Trieu, L.K. Lan, K. Lan, N.N. Hue, N.T.L. Huong, T.L.T.N. Thao, N.L. Quang, T.D.D. Anh, D.W. Crook, G.E. Thwaites, N.T.T. Thuong, N.B. Hoa, D.V. Luong, N.V. Hung   +28 more
doaj   +1 more source

GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease. [PDF]

Nat Commun
Gmelin D, Ohlei O, Aslam MM, Junge MP, Parkkinen L, Mullin K, Prokopenko D, Lill CM, Tanzi RE, Dobricic V, Bertram L.   +10 more
europepmc   +1 more source

Population‐Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole‐Genome Sequencing in Japan

Cancer Science, EarlyView.
Whole‐genome sequencing of ~50,000 individuals from the Tohoku Medical Megabank (TMM) cohort defines the prevalence, mutational landscape, and age dependency of clonal hematopoiesis in the Japanese population, demonstrating overall concordance with clonal hematopoiesis detected in cancer patients.
SungGi Chi, Ikuko N. Motoike, Takao Fujisawa, Yumi Yamaguchi‐Kabata, Takahiro Nobukuni, Kengo Kinoshita, Yoshiaki Nakamura, Hideaki Bando, Takayuki Yoshino, Kinuko Ohneda, Katsuya Tsuchihara, Yosuke Minami, Riu Yamashita   +12 more
wiley   +1 more source

Can whole genome data analysis be used to personalize breast cancer care? [PDF]

Transl Cancer Res
Xu W, Sauter ER.
europepmc   +1 more source

Mutational Signature‐Based Biomarker for Phase II Trial of Olaparib Maintenance in Advanced High‐Grade Ovarian Cancer

Cancer Science, EarlyView.
A whole‐exome sequencing–based mutational signature biomarker (MSBM) identified an HRD‐enriched population in advanced ovarian cancer. In a phase II trial, olaparib maintenance suggested clinically meaningful PFS benefit without bevacizumab, supporting MSBM as a complementary HRD assessment approach.
Katsutoshi Oda, Daisuke Shintani, Akira Nishijima, Mayuyo Mori, Kazuyoshi Kato, Shoji Nagao, Noriomi Matsumura, Masahiro Kagabu, Masataka Takenaka, Kosuke Yoshihara, Yosuke Konno, Junzo Hamanishi, Sho Sato, Shiro Takamatsu, Keiko Ueda, Kosuke Kashiwabara, Takashi Aoki, Kunihiro Nishimura, Kenji Tatsuno, Hiroyuki Aburatani, Kosei Hasegawa   +20 more
wiley   +1 more source