Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
暂无分享,去创建一个
Bernat Gel | Jean-Rémi Trotta | Eduard Serra | Joan Brunet | Gabriel Capellá | Marta Pineda | Conxi Lázaro | Marta Gut | Sergi Beltran | Elisabeth Castellanos | Lídia Feliubadaló | Ivo Gut | M. Gut | I. Gut | C. Lázaro | G. Capellá | S. Beltran | A. López-Dóriga | B. Gel | E. Serra | Jean-Rémi Trotta | L. Feliubadaló | J. Brunet | R. Tonda | Á. Teulé | M. Navarro | S. González | M. Menéndez | E. Tornero | M. Pineda | M. Gausachs | E. Castellanos | J. Del Valle | Matilde Navarro | Raúl Tonda | Mireia Gausachs | Adriana López-Doriga | Àlex Teulé | Eva Tornero | Jesús del Valle | Sara González | Mireia Menéndez | J. del Valle | A. Teule | S. González | Bernat Gel
[1] J. Hellemans,et al. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations , 2011, Human mutation.
[2] R. Sinke,et al. Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics , 2013, Human mutation.
[3] Naomi Aronson,et al. Making personalized medicine more affordable , 2015, Annals of the New York Academy of Sciences.
[4] A. Kurian,et al. Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment , 2015, Current opinion in obstetrics & gynecology.
[5] Yuya Kobayashi,et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[6] A. Howell,et al. Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer burden in the family , 2008, BMC Cancer.
[7] S. Syngal,et al. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. , 2015, Gastroenterology.
[8] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[9] M. Gasparri,et al. PARP inhibition: A promising therapeutic target in ovarian cancer. , 2015, Cellular and molecular biology.
[10] E. Boerwinkle,et al. dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations , 2013, Human mutation.
[11] Ignacio Blanco,et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes , 2012, European Journal of Human Genetics.
[12] Julie O. Culver,et al. Genetics, genomics, and cancer risk assessment , 2011, CA: a cancer journal for clinicians.
[13] K. Offit,et al. Cancer genomics and inherited risk. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[14] Sheena M. Scroggins,et al. Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas , 2013, Clinical Cancer Research.
[15] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[16] Bartha Maria Knoppers,et al. Return of genetic testing results in the era of whole-genome sequencing , 2015, Nature Reviews Genetics.
[17] Herb Chen,et al. Is intraoperative parathyroid hormone monitoring necessary with ipsilateral parathyroid gland visualization during anticipated unilateral exploration for primary hyperparathyroidism: a two-institution analysis of more than 2,000 patients. , 2014, Surgery.
[18] L. Vissers,et al. Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.
[19] S. Ferrari,et al. Author contributions , 2021 .
[20] Jonathan M. Mudge,et al. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. , 2009, Genome research.
[21] Nazneen Rahman,et al. Realizing the promise of cancer predisposition genes , 2014, Nature.
[22] Rémy Bruggmann,et al. New insights into the performance of human whole-exome capture platforms , 2015, Nucleic acids research.
[23] T. Frebourg,et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes , 2014, European Journal of Human Genetics.
[24] O. Gottesman,et al. Implementation and utilization of genetic testing in personalized medicine , 2014, Pharmacogenomics and personalized medicine.
[25] W. Newman,et al. Delivery of a Clinical Genomics Service , 2014, Genes.
[26] Joshua L. Deignan,et al. ACMG clinical laboratory standards for next-generation sequencing , 2013, Genetics in Medicine.
[27] Yuan Xue,et al. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing , 2014, Genetics in Medicine.
[28] Jessie H. Conta,et al. Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications , 2013, American Journal of Medical Genetics. Part A.
[29] Janet Entwistle,et al. Analysis and Implications , 2005, Menachem Begin and the Israel-Egypt Peace Process.
[30] Tina Pesaran,et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients , 2014, Genetics in Medicine.
[31] Heng Li,et al. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data , 2011, Bioinform..
[32] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[33] Paolo Ribeca,et al. Efficient Alignment of Illumina‐Like High‐Throughput Sequencing Reads with the GEnomic Multi‐tool (GEM) Mapper , 2015, Current protocols in bioinformatics.
[34] E. Cuppen,et al. Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[35] Quinten Waisfisz,et al. Best Practice Guidelines for the Use of Next‐Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories , 2013, Human mutation.
[36] A. Janssens,et al. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities , 2011, European Journal of Human Genetics.
[37] Y. Teo,et al. Feasibility of low-throughput next generation sequencing for germline DNA screening. , 2014, Clinical chemistry.
[38] A. Cambon-Thomsen,et al. Background Document to the ESHG recommendations on genetic testing and common disorders , 2011 .
[39] N. Rahman,et al. Mainstreaming genetic testing of cancer predisposition genes. , 2014, Clinical medicine.
[40] Pablo Cingolani,et al. Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift , 2012, Front. Gene..
[41] Kenneth Offit,et al. Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention , 2014, Science.
[42] Eivind Hovig,et al. Performance comparison of four exome capture systems for deep sequencing , 2014, BMC Genomics.
[43] L. Tafe. Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes: A Focus on Lynch Syndrome and Associated Endometrial Cancer. , 2015, The Journal of molecular diagnostics : JMD.