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1. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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2. Full Text Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
by Weinreb, Ilan and Piscuoglio, Salvatore and Martelotto, Luciano G and Waggott, Daryl and Ng, Charlotte K Y and Perez-Ordonez, Bayardo and Harding, Nicholas J and Alfaro, Javier and Chu, Kenneth C and Viale, Agnes and Fusco, Nicola and Da Cruz Paula, Arnaud and Marchio, Caterina and Sakr, Rita A and Lim, Raymond and Thompson, Lester D R and Chiosea, Simion I and Seethala, Raja R and Skalova, Alena and Stelow, Edward B and Fonseca, Isabel and Assaad, Adel and How, Christine and Wang, Jianxin and De Borja, Richard and Chan-Seng-Yue, Michelle and Howlett, Christopher J and Nichols, Anthony C and Wen, Y Hannah and Katabi, Nora and Buchner, Nicholas and Mullen, Laura and Kislinger, Thomas and Wouters, Bradly G and Liu, Fei-Fei and Norton, Larry and McPherson, John D and Rubin, Brian P and Clarke, Blaise A and Weigelt, Britta and Boutros, Paul C and Reis-Filho, Jorge S
Nature genetics, ISSN 1061-4036, 11/2014, Volume 46, Issue 11, pp. 1166 - 1169
Immunohistochemistry | Amino Acid Sequence | NIH 3T3 Cells | Protein Kinase C - genetics | Adenocarcinoma - pathology | Immunoprecipitation | Salivary Gland Neoplasms - genetics | Humans | Models, Molecular | Molecular Sequence Data | Sequence Analysis, DNA | Mutation, Missense - genetics | Microscopy, Confocal | Sequence Alignment | Animals | Mutagenesis | Protein Kinase C - chemistry | Adenocarcinoma - genetics | Mice | Salivary Gland Neoplasms - pathology | Adenocarcinoma | Genetic aspects | Gene mutations | Salivary gland tumors | Health aspects | Protein kinases | Studies | Medical research | Mutation | Kinases | Index Medicus
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3. Full Text Genomic hallmarks of localized, non-indolent prostate cancer
by Fraser, Michael and Sabelnykova, Veronica Y and Yamaguchi, Takafumi N and Heisler, Lawrence E and Livingstone, Julie and Huang, Vincent and Shiah, Yu-Jia and Yousif, Fouad and Lin, Xihui and Masella, Andre P and Fox, Natalie S and Xie, Michael and Prokopec, Stephenie D and Berlin, Alejandro and Lalonde, Emilie and Ahmed, Musaddeque and Trudel, Dominique and Luo, Xuemei and Beck, Timothy A and Meng, Alice and Zhang, Junyan and D'Costa, Alister and Denroche, Robert E and Kong, Haiying and Espiritu, Shadrielle Melijah G and Chua, Melvin L. K and Wong, Ada and Chong, Taryne and Sam, Michelle and Johns, Jeremy and Timms, Lee and Buchner, Nicholas B and Orain, Michèle and Picard, Valérie and Hovington, Helène and Murison, Alexander and Kron, Ken and Harding, Nicholas J and P'ng, Christine and Houlahan, Kathleen E and Chu, Kenneth C and Lo, Bryan and Nguyen, Francis and Li, Constance H and Sun, Ren X and De Borja, Richard and Cooper, Christopher I and Hopkins, Julia F and Govind, Shaylan K and Fung, Clement and Waggott, Daryl and Green, Jeffrey and Haider, Syed and Chan-Seng-Yue, Michelle A and Jung, Esther and Wang, Zhiyuan and Bergeron, Alain and Dal Pra, Alan and Lacombe, Louis and Collins, Colin C and Sahinalp, Cenk and Lupien, Mathieu and Fleshner, Neil E and He, Housheng H and Fradet, Yves and Tetu, Bernard and Van Der Kwast, Theodorus and McPherson, John D and Bristow, Robert G and Boutros, Paul C
Nature (London), ISSN 0028-0836, 01/2017, Volume 541, Issue 7637, pp. 359 - 364
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prostatic Neoplasms - pathology | Recurrence | Prognosis | Genomics | Humans | Male | Chromothripsis | Genome, Human - genetics | Prostatic Neoplasms, Castration-Resistant - genetics | Prostatic Neoplasms, Castration-Resistant - pathology | DNA Copy Number Variations | Neoplasm Metastasis - genetics | DNA Methylation | Exome - genetics | Prostatic Neoplasms - genetics | Mutation | Relapse | Analysis | Development and progression | Genetic aspects | Research | Prostate cancer | Cancer | Diseases | Studies | Genes | Medical prognosis | Genomes | Metastasis | Cancer therapies | Aggressiveness | Tumors | Index Medicus
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4. Full Text Accuracy in wrist-worn, sensor-based measurements of heart rate and energy expenditure in a diverse cohort
by Shcherbina, Anna and Mikael Mattsson, C and Waggott, Daryl and Salisbury, Heidi and Christle, Jeffrey W and Hastie, Trevor and Wheeler, Matthew T and Ashley, Euan A
Journal of personalized medicine, ISSN 2075-4426, 06/2017, Volume 7, Issue 2, p. 3
Heart rate | Validation | Energy expenditure | Activity monitors | Fitness trackers | Mobile health | Cycles | Physical activity | Energy measurement | Watches | Heat measurement | Males | Telemetry | Wrist | Body mass index | Walking | Errors | Accuracy | Body mass | Calorimetry | Skin | Fitness | Wearable technology | Medicin och hälsovetenskap
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5. Full Text Spatial genomic heterogeneity within localized, multifocal prostate cancer
by Boutros, Paul C and Fraser, Michael and Harding, Nicholas J and de Borja, Richard and Trudel, Dominique and Lalonde, Emilie and Meng, Alice and Hennings-Yeomans, Pablo H and McPherson, Anew and Sabelnykova, Veronica Y and Zia, Amin and Fox, Natalie S and Livingstone, Julie and Shiah, Yu-Jia and Wang, Jianxin and Beck, Timothy A and Have, Cherry L and Chong, Taryne and Sam, Michelle and Johns, Jeremy and Timms, Lee and Buchner, Nicholas and Wong, Ada and Watson, John D and Simmons, Trent T and P'ng, Christine and Zafarana, Gaetano and Nguyen, Francis and Luo, Xuemei and Chu, Kenneth C and Prokopec, Stephenie D and Sykes, Jenna and Dal Pra, Alan and Berlin, Alejano and Brown, Anew and Chan-Seng-Yue, Michelle A and Yousif, Fouad and Denroche, Robert E and Chong, Lauren C and Chen, Gregory M and Jung, Esther and Fung, Clement and Starmans, Maud H. W and Chen, Hanbo and Govind, Shaylan K and Hawley, James and D'Costa, Alister and Pintilie, Melania and Waggott, Daryl and Hach, Faraz and Lambin, Philippe and Muthuswamy, Lakshmi B and Cooper, Colin and Eeles, Rosalind and Neal, David and Tetu, Bernard and Sahinalp, Cenk and Stein, Lincoln D and Fleshner, Neil and Shah, Sohrab P and Collins, Colin C and Hudson, Thomas J and McPherson, John D and van der Kwast, Theodorus and Bristow, Robert G
Nature genetics, ISSN 1061-4036, 07/2015, Volume 47, Issue 7, pp. 736 - +
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prostatic Neoplasms - pathology | Genetic Association Studies | Humans | Middle Aged | Male | Genetic Heterogeneity | DNA Copy Number Variations | Point Mutation | Neoplasm Grading | Prostatic Neoplasms - genetics | Cell Line, Tumor | Polymorphism, Single Nucleotide | Proto-Oncogene Proteins c-myc - genetics | Genome, Human | Copy number variations | Development and progression | Genetic aspects | Properties | Prostate cancer | Identification and classification | Oncogenes | Medical research | Mortality | Genomes | Gene expression | Cancer therapies | Patients | Studies | Pathology | Biopsy | Men | Biomarkers | Tumors | Index Medicus
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6. Full Text Long-read genome sequencing identifies causal structural variation in a Mendelian disease
by Merker, Jason D and Wenger, Aaron M and Sneddon, Tam and Grove, Megan and Zappala, Zachary and Fresard, Laure and Waggott, Daryl and Utiramerur, Sowmi and Hou, Yanli and Smith, Kevin S and Montgomery, Stephen B and Wheeler, Matthew and Buchan, Jillian G and Lambert, Christine C and Eng, Kevin S and Hickey, Luke and Korlach, Jonas and Ford, James and Ashley, Euan A
Genetics in medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 159 - 163
PRKAR1A | long-read sequencing | structural variant | Carney complex | PacBio | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Genetic Predisposition to Disease | Echocardiography | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Male | Genetic Variation | Phenotype | Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics | Genome, Human | Genomics - methods | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Genomes | Index Medicus
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7. Full Text Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
by Ewing, Adam D and Houlahan, Kathleen E and Hu, Yin and Ellrott, Kyle and Caloian, Cristian and Yamaguchi, Takafumi N and Bare, J Christopher and P'Ng, Christine and Waggott, Daryl and Sabelnykova, Veronica Y and Kellen, Michael R and Norman, Thea C and Haussler, David and Friend, Stephen H and Stolovitzky, Gustavo and Margolin, Adam A and Stuart, Joshua M and Boutros, Paul C and ICGC-TCGA Dream Somatic Mutation and ICGC-TCGA DREAM Somatic Mutation Calling Challenge participants
Nature methods, ISSN 1548-7091, 06/2015, Volume 12, Issue 7, pp. 623 - 630
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Crowdsourcing | Algorithms | Neoplasms - genetics | Humans | Benchmarking | Polymorphism, Single Nucleotide | Genome | Care and treatment | Analysis | Genomes | Aberration | Research | Simulation methods | Cancer | Index Medicus
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8. Full Text Biological insights into muscular strength: Genetic findings in the UK Biobank
by Tikkanen, Emmi and Gustafsson, Stefan and Amar, David and Shcherbina, Anna and Waggott, Daryl and Ashley, Euan A and Ingelsson, Erik
Scientific reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 6451 - 9
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Muscle Strength - genetics | Humans | Male | United Kingdom | Cognition | Atrial Fibrillation - genetics | Coronary Disease - genetics | Biological Specimen Banks | Polymorphism, Single Nucleotide - genetics | Female | Genetic Variation - genetics | Genome-Wide Association Study - methods | Hand Strength | Quantitative Trait Loci - genetics | Fibrillation | Cognitive ability | Cardiovascular disease | Genomes | Genetic diversity | Muscular strength | Neurodevelopmental disorders | Gene expression | Heart diseases | Coronary artery disease | Index Medicus
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9. Full Text NanoStringNorm: an extensible R package for the pre-processing of NanoString mRNA and miRNA data
by Waggott, Daryl and Chu, Kenneth and Yin, Shaoming and Wouters, Bradly G and Liu, Fei-Fei and Boutros, Paul C
Bioinformatics (Oxford, England), ISSN 1367-4803, 06/2012, Volume 28, Issue 11, pp. 1546 - 1548
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Paraffin Embedding | Algorithms | MicroRNAs - analysis | Nanotechnology - methods | Nanotechnology - instrumentation | RNA, Messenger - analysis | Software | Index Medicus | Applications Note
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