Results 81 to 90 of about 157,645 (329)

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +1 more source

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement [PDF]

, 2013
Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families.
Bradfield, J., Cardinale, C., Golhar, R., Guo, Y. F., Hakonarson, H., Hou, C. P., Kim, C., Lyon, G. J., Otieno, F. G., Thomas, K., Toskala, E., Wang, K.   +11 more
core   +1 more source

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations. [PDF]

, 2015
BackgroundEstimation of individual ancestry from genetic data is useful for the analysis of disease association studies, understanding human population history and interpreting personal genomic variation. New, computationally efficient methods are needed
Bansal, Vikas, Libiger, Ondrej
core   +2 more sources

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

npj Genomic Medicine, 2017
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady   +12 more
doaj   +1 more source

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC Medical Genomics, 2012
Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G   +3 more
doaj   +1 more source

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

Journal of Medical Genetics, 2016
Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing.We used exome or whole genome sequencing to seek a ...
Elizabeth A Tidey, Kerry A. Miller, Peter J. van der Spek, Jacqueline A C Goos, Sigrid M. A. Swagemakers, Stephen R.F. Twigg, Judith Craft, Astrid Weber, John Taylor, Deirdre Cilliers, Simon J. McGowan, Aimee L. Fenwick, Tracy Lester, Elizabeth Sweeney, Andrew O.M. Wilkie, Noina Abid, Louise C. Wilson, David W. Johnson, Jenny C. Taylor, Jenny C. Taylor, Jenny C. Taylor, Steven A. Wall, Julie M. Phipps, Irene M.J. Mathijssen, Katie E. M. Rees, Jenny Morton, Peter Noons, Helen Lord, Jane A. Hurst   +28 more
openaire   +6 more sources

희귀 신경근 질환의 유전체, 전사체 통합 분석 연구 [PDF]

, 2019
학위논문(석사)--서울대학교 대학원 :의과대학 의과학과,2019. 8. 최무림.Whole exome sequencing (WES)은 비용 및 데이터 처리의 용이성으로 인하여 희귀질환 진단등에 매우 효과적인 방법이 되었다. 그러나 variant of unknown significances (VUS)를 해석하는 어려움과non-coding 변이형을 확인할 수 없다는 점 등의 이유로 WES 기반의 희귀질환 진단률은 대부분 50%를 넘지 못한다.
Jana Kneissl
core  

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +3 more sources

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract

Cancer Communications, Volume 42, Issue 12, Page 1367-1386, December 2022., 2022
Abstract Background Neuroendocrine carcinomas of the gastrointestinal tract (GI‐NECs) remain a disease of grim prognosis with limited therapeutic options. Their molecular characteristics are still undefined. This study aimed to explore the underlying genetic basis and heterogeneity of GI‐NECs.
Huanwen Wu, Zicheng Yu, Yueping Liu, Lei Guo, Lianghong Teng, Lingchuan Guo, Li Liang, Jing Wang, Jie Gao, Ruiyu Li, Ling Yang, Xiu Nie, Dan Su, Zhiyong Liang   +13 more
wiley   +1 more source