Results 101 to 110 of about 73,831 (171)

Supplementary Figure S2 from HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data [PDF]

Ammal Abbasi, Christopher D. Steele, Erik N. Bergstrom, Azhar Khandekar, Akanksha Farswan, Rana R. McKay, Nischalan Pillay, Ludmil B. Alexandrov   +7 more
openalex   +1 more source

Mutational signatures in hematological malignancies. [PDF]

Einstein (Sao Paulo)
Sartori FA, Pontes JVP, Campregher PV, LaFramboise T.   +3 more
europepmc   +1 more source

Supplementary Figure S7 from HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data [PDF]

Ammal Abbasi, Christopher D. Steele, Erik N. Bergstrom, Azhar Khandekar, Akanksha Farswan, Rana R. McKay, Nischalan Pillay, Ludmil B. Alexandrov   +7 more
openalex   +1 more source

Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population. [PDF]

Front Hum Neurosci
Hamadi A, Mir R, Al-Amer OM, Alasseiri M, AlZamzami W, Alatawi S, Alanazi MA, Moawadh MS, Oyouni AAA, Al Tuwaijri A, Althenayyan S, Madkhali HA, Alserihi R.   +12 more
europepmc   +1 more source

Genomic Insights into Uterine Leiomyomas: A Systematic Review of Whole-Genome and Whole- Exome Sequencing Studies [PDF]

Herbert Sıtumorang, Putri Nabila, Ilham Utama Surya, Muhammad Dwi Priangga, Riyan Hari Kurniawan, Cepi Teguh Pramayadi, Eka Rusdianto Gunardi   +6 more
openalex   +1 more source

Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing [PDF]

David Fielding, Vanessa Lakis, Andrew J. Dalley, Haarika Chittoory, Felicity Newell, Lambros T. Koufariotis, Ann‐Marie Patch, Stephen H. Kazakoff, Farzad Bashirzadeh, Jung Hwa Son, Kimberley Ryan, Daniel Steinfort, Jonathan Williamson, Michael Bint, Carl Pahoff, Phan Nguyen, Scott Twaddell, David Arnold, Christopher Grainge, Andrew Pattison, David J. Fairbairn, Shailendra Gune, Jemma J. Christie, Oliver Holmes, Conrad Leonard, Scott Wood, John V. Pearson, Sunil R. Lakhani, Nicola Waddell, Peter T. Simpson, Kátia Nones   +30 more
openalex   +1 more source

THU0024 Whole genome linkage and exome sequencing analyses in an autosomal recessive takayasu arteritis family [PDF]

, 2017
İlker Karacan, Sinem Nihal Esatoğlu, Eda Tahir Turanlı, Aslıhan Tolun, Emire Seyahi   +4 more
openalex   +1 more source

A Partial <i>UMOD</i> Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin. [PDF]

Kidney Med
Fagnoul S, Ghisdal L, Marangoni M, Detry C, Dacremont-Rodriguez P, Bisteau X, Imbault V, Catalano C, Smits G, Le Moine A, Migeotte I.   +10 more
europepmc   +1 more source

Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes [PDF]

Shuming Guo, Zhuo Huang, Yanming Zhang, Yukun He, Xiangju Chen, Wenjuan Wang, L.M. Li, Yu Kang, Zhancheng Gao, Jun Yu, Zhenglin Du, Yanan Chu   +11 more
openalex   +1 more source

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source