Results 211 to 220 of about 122,453 (313)

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

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Differences in tumor mutational burden assessment: a national ring trial. [PDF]

Acta Oncol
Federspiel Secher C, Westmose Yde C, Elmedal Laursen B, Høgdall E, Sylvain Thomsen H, Svenstrup Poulsen T, Sønderkær M, Kringelbach T, Malik Aagaard Jørgensen M, Frydendahl Sick Olsen R, Elaine Sørensen A, Baudet C, Gíslason MH, Knudsen M, Buhl IK.   +14 more
europepmc   +1 more source

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

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

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Cell-Free DNA Uncovered Tumor Heterogeneity and Informed Targeted Therapy in a Pediatric Rhabdomyosarcoma. [PDF]

JCO Precis Oncol
Faucher J, Richer C, Langlois S, Rouette A, Bianco S, Sontag T, Lepage MÈ, Da Silva E, Cellot S, Tran TH, Parbhoo K, Cottrell CE, Sinnett D, Michon B, Lavallée VP, Santiago R.   +15 more
europepmc   +1 more source

Narrative Genomics: Creating a Stage for Inquiry and Bioethics Education [PDF]

, 2020
Bush, Lynn Wein
core   +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