Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, Radoje, Sparks, Andrew B., Callow, Matthew J., Halpern, Aaron L., Burns, Norman L., Kermani, Bahram G., Carnevali, Paolo, Nazarenko, Igor, Nilsen, Geoffrey B., Yeung, George, Dahl, Fredrik, Fernandez, Andres, Staker, Bryan, Pant, Krishna P., Baccash, Jonathan, Borcherding, Adam P., Brownley, Anushka, Cedeno, Ryan, Chen, Linsu, Chernikoff, Dan, Cheung, Alex, Chirita, Razvan, Curson, Benjamin, Ebert, Jessica C., Hacker, Coleen R., Hartlage, Robert, Hauser, Brian, Huang, Steve, Jiang, Yuan, Karpinchyk, Vitali, Koenig, Mark, Kong, Calvin, Landers, Tom, Le, Catherine, Liu, Jia, McBride, Celeste E., Morenzoni, Matt, Morey, Robert E., Mutch, Karl, Perazich, Helena, Perry, Kimberly, Peters, Brock A., Peterson, Joe, Pethiyagoda, Charit L., Pothuraju, Kaliprasad, Richter, Claudia, Rosenbaum, Abraham M., Roy, Shaunak, Shafto, Jay, Sharanhovich, Uladzislau, Shannon, Karen W., Sheppy, Conrad G., Sun, Michel, Thakuria, Joseph V., Tran, Anne, Vu, Dylan, Zaranek, Alexander Wait, Wu, Xiaodi, Drmanac, Snezana, Oliphant, Arnold R., Banyai, William C., Martin, Bruce, Ballinger, Dennis G., Church, George M., Reid, Clifford A.·2010·Science
Cited by (1,000)
Items 501–600 of 1,000
- Quantifying Interdependent Risks in Genomic PrivacyMathias Humbert, Erman Ayday, Jean‐Pierre Hubaux, Amalio Telenti · 2017 · ACM Transactions on Privacy and Security
- Generation of in situ sequencing based OncoMaps to spatially resolve gene expression profiles of diagnostic and prognostic markers in breast cancerJessica Svedlund, Carina Strell, Xiaoyan Qian, Kilian Johannes Carl Zilkens, Nicholas P. Tobin, Jonas C. S. Bergh, Anieta M. Sieuwerts, Mats F. Nilsson · 2019 · EBioMedicine
- Big Data and Actuarial ScienceHossein Hassani, Stephan Unger, Christina C. Beneki · 2020 · Big Data and Cognitive Computing
- Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differencesMarzieh Eslami Rasekh, Yozen A. Hernandez, Samantha D. Drinan, Juan I. Fuxman Bass, Gary Benson · 2021 · Nucleic Acids Research
- In depth comparison of an individual’s DNA and its lymphoblastoid cell line using whole genome sequencingDorothee Nickles, Lohith Madireddy, Shan Yang, Pouya Khankhanian, Steve Lincoln, Stephen L. Hauser, Jorge R. Oksenberg, Sergio E. Baranzini · 2012 · BMC Genomics
- Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cellsAndréanne Morin, Tony Kwan, Bing Ge, Louis Létourneau, Maria Ban, Karolina Tandre, Maxime Caron, Johanna K. Sandling, Jonas Carlsson, Guillaume Bourque et al. · 2016 · BMC Medical Genomics
- Dissecting the brain with spatially resolved multi-omicsYijia Fangma, Mengting Liu, Jie Liao, Zhong Chen, Yanrong Zheng · 2023 · Journal of Pharmaceutical Analysis
- THE REFERENCE HUMAN GENOME DEMONSTRATES HIGH RISK OF TYPE 1 DIABETES AND OTHER DISORDERSRong Chen, Atul Janardhan Butte · 2010 · WORLD SCIENTIFIC eBooks
- Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi LevitesSiiri Rootsi, Doron M. Behar, Mari Järve, Alice A. Lin, Natalie M. Myres, Ben Passarelli, G. David Poznik, Shay Tzur, Hovhannes Sahakyan, Ajai Kumar Pathak et al. · 2013 · Nature Communications
- Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1Kristoffer Björkman, Kalliopi Sofou, Niklas Darín, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali‐Reza Moslemi, M. Tulinius · 2015 · Mitochondrion
- Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencerQian Jiang, Tychele N. Turner, Maria X. Sosa, Ankit Rakha, Stacey M. Arnold, Aravinda Chakravarti · 2011 · Human Mutation
- Updating the Y-chromosomal phylogenetic tree for forensic applications based on whole genome SNPsAnneleen Van Geystelen, Ronny Decorte, Maarten Larmuseau · 2013 · Forensic Science International Genetics
- Overview of Sequencing Technology PlatformsSamuel Myllykangas, Jason Daniel Buenrostro, Hanlee P. Ji · 2011 · Springer eBooks
- Molecular Occupancy of Nanodot ArraysHaogang Cai, Haguy Wolfenson, David Depoil, Michael Loran Dustin, Michael P. Sheetz, Shalom J. Wind · 2016 · ACS Nano
- Microcontact printing with aminosilanes: creating biomolecule micro- and nanoarrays for multiplexed microfluidic bioassaysShivani Sathish, Sébastien G. Ricoult, Kazumi Toda‐Peters, Amy Q. Shen · 2017 · The Analyst
- A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosisJacqueline A.C. Goos, W. Vogel, Hana Mlčochová, Christopher J. Millard, Elahe Esfandiari, Wisam Hussein Selman, Eduardo Calpena, Nils Koelling, Evan L. Carpenter, Sigrid M. A. Swagemakers et al. · 2019 · Human Molecular Genetics
- The landscape of somatic mutation in sporadic Chinese colorectal cancerZhe Liu, Chao Yang, Xiangchun Li, Wen Luo, Bhaskar Roy, Teng Xiong, Xiuqing Zhang, Huanming Yang, jian Zi Wang, Zhenhao Ye et al. · 2018 · Oncotarget
- Efficient COI barcoding using high throughput single-end 400 bp sequencingChentao Yang, Yuxuan Zheng, Shangjin Tan, Guanliang Meng, Wei Rao, Cai‐qing Yang, David G. Bourne, Paul A. O’Brien, Junqiang Xu, Sha Liao et al. · 2020 · BMC Genomics
- Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencingRosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham et al. · 2022 · Scientific Reports
- Reconciling Utility with Privacy in GenomicsMathias Humbert, Erman Ayday, Jean‐Pierre Hubaux, Amalio Telenti · 2014 · Workshop on Privacy in the Electronic Society
- De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel diseaseShinichi Takahashi, Gaia Andreoletti, Rui Chen, Yoichi Munehira, Akshay Batra, Nadeem Ahmad Afzal, R Mark Beattie, Jonathan Adam Bernstein, Sarah Ennis, Michael P. Snyder · 2017 · Genome Medicine
- Gene fusions by chromothripsis of chromosome 5q in the VCaP prostate cancer cell lineInês Teles Alves, Saskia Hiltemann, Thomas A. Hartjes, Peter J. van der Spek, Andrew Stubbs, Jan Trapman, Guido W Jenster · 2013 · Human Genetics
- CooVar: Co-occurring variant analyzerIsmael A. Vergara, Christian Frech, Nansheng Chen · 2012 · BMC Research Notes
- Function identification of miR159a, a positive regulator during poplar resistance to drought stressTiantian Fu, Chun Wang, Yuzhang Yang, Xiaoqian Yang, Jing Wang, Li‐Chun Zhang, Zeqi Wang, Yanwei Wang · 2023 · Horticulture Research
- Apparent Variation in Neanderthal Admixture among African Populations is Consistent with Gene Flow from Non-African PopulationsShuoguo Wang, Joseph Lachance, Sarah A. Tishkoff, Jody Hey, Jinchuan Xing · 2013 · Genome Biology and Evolution
- Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSarah Herdewyn, Hui Zhao, Matthieu Moisse, Valérie Race, Gert Matthijs, Joke Reumers, Benno Küsters, Helenius Jurgen Schelhaas, Leonard H. van den Berg, An Goris et al. · 2012 · Human Molecular Genetics
- ACT: aggregation and correlation toolbox for analyses of genome tracksJustin Jee, Joel S. Rozowsky, Kevin Yuk-Lap Yip, Lucas Lochovsky, Robert D. Bjornson, Guoneng Zhong, Zhengdong D. Zhang, Yutao Fu, Jie Wang, Zhiping Weng et al. · 2011 · Bioinformatics
- Highly comparable metabarcoding results from MGI-Tech and Illumina sequencing platformsSten Anslan, Vladimir S. Mikryukov, Kęstutis Armolaitis, Jelena Ankuda, Dagnija Lazdiņa, Kristaps Makovskis, Lars Vesterdal, Inger Kappel Schmidt, Leho Tedersoo · 2021 · PeerJ
- Deep learning-based single-shot structured illumination microscopyQinnan Zhang, Jiawei Chen, Jiaosheng Li, En Bo, He-ming Jiang, Xiaoxu Lü, Liyun Zhong, Jindong Tian · 2022 · Optics and Lasers in Engineering
- Genomes, Populations and Diseases: Ethnic Genomics and Personalized MedicineВ. А. Степанов · 2010 · Acta Naturae
- Whole Genome and Transcriptome Sequencing of a B3 ThymomaIacopo Petrini, Arun Rajan, Trung C. Pham, Donna M. Voeller, Sean R. Davis, James Gao, Yisong Wang, Giuseppe Giaccone · 2013 · PLoS ONE
- Heterogeneity of the Transition/Transversion Ratio in Drosophila and Hominidae GenomesVladimir B. Seplyarskiy, Peter V. Kharchenko, Alexey S. Kondrashov, Georgii A. Bazykin · 2012 · Molecular Biology and Evolution
- Electroanalysis of single-nucleotide polymorphism by hairpin DNA architecturesAlireza Abi, Elena E. Ferapontova · 2012 · Analytical and Bioanalytical Chemistry
- Cancer Genome Sequencing and Its Implications for Personalized Cancer VaccinesLijin Li, Peter S. Goedegebuure, Elaine R. Mardis, Matthew J. Ellis, Xiuli Zhang, John M. Herndon, Timothy P. Fleming, Beatriz M. Carreno, Ted H. Hansen, William E. Gillanders · 2011 · Cancers
- RT-qPCR and ATOPlex sequencing for the sensitive detection of SARS-CoV-2 RNA for wastewater surveillanceWarish Ahmed, Aaron W. Bivins, Suzanne S. Metcalfe, Wendy J. M. Smith, Ryan M. Ziels, Asja Korajkic, Brian R. McMinn, Tyson Ernst Graber, Stuart L. Simpson · 2022 · Water Research
- Field‐Effect Transistor‐Based Biosensor for pH Sensing and MappingHuihui Ren, Kun Liang, Dingwei Li, Yitong Chen, Yingjie Tang, Yan Wang, Fanfan Li, Guolei Liu, Bowen Zhu · 2023 · Advanced Sensor Research
- Single cell sequencing: technique, application, and future developmentRuidong Xue, Ruoyan Li, Fan Bai · 2014 · 中国科学通报:英文版
- A high-throughput optomechanical retrieval method for sequence-verified clonal DNA from the NGS platformHowon Lee, Hyoki Kim, Sungsik Kim, Taehoon Ryu, Hwangbeom Kim, Duhee Bang, Sunghoon Kwon · 2015 · Nature Communications
- The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort designPaul A Lacaze, Mark Pinese, Warren H. Kaplan, Andrew M. Stone, Marie‐Jo Brion, Robyn L. Woods, Martin McNamara, John J. McNeil, Marcel E. Dinger, David Morgan Thomas · 2018 · European Journal of Human Genetics
- Gene inactivation and its implications for annotation in the era of personal genomicsSuganthi Balasubramanian, Lukas Habegger, Adam Frankish, Daniel G. MacArthur, Rachel Harte, Chris Tyler‐Smith, Jennifer Harrow, Mark Gerstein · 2011 · Genes & Development
- Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastomaGonzalo López, Karina L. Conkrite, Miriam Doepner, Komal S. Rathi, Apexa Modi, Zalman Vaksman, Lance M. Farra, Eric Hyson, Moataz Noureddine, Jun Stephen Wei et al. · 2020 · Genome Research
- Massively parallel sequencing: the new frontier of hematologic genomicsJill M. Johnsen, Deborah A. Nickerson, Alex P. Reiner · 2013 · Blood
- The Ultimate Genetic TestR. Drmanac · 2012 · Science
- Toward the Single-Hour High-Quality GenomePatrik L. Ståhl, Joakim Lundeberg · 2012 · Annual Review of Biochemistry
- Clinical Implications of Human Population Differences in Genome-Wide Rates of Functional GenotypesAli Torkamani, Phillip Pham, Ondrej Libiger, Vikas Bansal, Guangfa Zhang, Ashley A. Scott‐Van Zeeland, Ryan Tewhey, Eric J. Topol, Nicholas J. Schork · 2012 · Frontiers in Genetics
- Next-Generation Sequencing (NGS)Min Wang · 2021 · Springer eBooks
- An emerging place for lung cancer genomics in 2013.Marissa G. Daniels, Rayleen Bowman, Ian A. Yang, Ramaswamy Govindan, Kwun Meng Fong · 2013 · Europe PMC (PubMed Central)
- Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP DiscoveryAnna Kiialainen, Olof Karlberg, Annika Ahlford, Snævar Sigurðsson, Kerstin Lindblad‐Toh, Ann‐Christine Syvänen · 2011 · PLoS ONE
- Variation in Heterozygosity Predicts Variation in Human Substitution Rates between Populations, Individuals and Genomic RegionsWilliam Amos · 2013 · PLoS ONE
- Isothermal amplification method for next-generation sequencingZhaochun Ma, Raymond W. Lee, Bin Li, Paul Kenney, Yufang Wang, Jonathan Erikson, Swati Goyal, Kaiqin Lao · 2013 · Proceedings of the National Academy of Sciences
- Fourth-generation sequencing in the cell and the clinicMarco Mignardi, Mats F. Nilsson · 2014 · Genome Medicine
- Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk groupAndrey Sergeyevich Glotov, Sergey Viktorovich Kazakov, Елена Жукова, Anton Alexandrov, Oleg S. Glotov, Vladimir Stepanovich Pakin, Maria M. Danilova, Irina V. Poliakova, Ниязова Светлана Сергеевна, N. N. Chakova et al. · 2015 · Clinica Chimica Acta
- Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiencyCarlo Dionisi‐Vici, Eyal Shteyer, Marcello Niceta, Cristiano Rizzo, Ben Pode‐Shakked, Giovanni Chillemi, Alessandro Bruselles, Michela Semeraro, Ortal Barel, Eran Eyal et al. · 2016 · Journal of Inherited Metabolic Disease
- A test for ancient selective sweeps and an application to candidate sites in modern humansRacimo, Fernando, Kuhlwilm, Martin, Slatkin, Montgomery · 2014 · Molecular Biology and Evolution
- A Chronological Atlas of Natural Selection in the Human Genome during the Past Half-million YearsZhou, Hang, Hu, Sile, Matveev, Rostislav, Yu, Qianhui, Li, Jing, Khaitovich, Philipp, Jin, Li, Lachmann, Michael, Stoneking, Mark, Fu, Qiaomei et al. · 2015
- Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non‐syndromic dilated cardiomyopathyPamela A. Long, Jared M. Evans, Timothy M. Olson · 2015 · American Journal of Medical Genetics Part A
- Evolution of DNA sequencing.Hamid Nawaz Tipu, Ambreen Shabbir · 2015 · PubMed
- Electrochemical sandwich assay for attomole analysis of DNA and RNA from beer spoilage bacteria Lactobacillus brevisStepan Shipovskov, Aaron Marc Saunders, Jesper S. Nielsen, Majken N. Hansen, Kurt V. Gothelf, Elena E. Ferapontova · 2012 · Biosensors and Bioelectronics
- A 265-Base DNA Sequencing Read by Capillary Electrophoresis with No Separation MatrixJennifer A. Coyne, Jennifer S Lin, Annelise E. Barron · 2010 · Analytical Chemistry
- Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing DataBrett Kennedy, Zev N. Kronenberg, Hao Hu, Barry Moore, Steven D. Flygare, Martin G. Reese, Lynn B. Jorde, Mark D. Yandell, Chad Daniel Huff · 2014 · Current Protocols in Human Genetics
- A highly accurate platform for clone-specific mutation discovery enables the study of active mutational processesEli M. Carrami, Sahand Sharifzadeh, Nina C Wietek, Mara Artibani, Salma El-Sahhar, Tatjana Sauka‐Spengler, Christopher Yau, Volker Tresp, Ahmed A. Ahmed · 2020 · eLife
- Telescoper: de novo assembly of highly repetitive regionsMa’ayan Bresler, Sara Sheehan, Andrew H. Chan, Yun S. Song · 2012 · Bioinformatics
- Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibilityShannon Bruse, Michael Moreau, Yana Bromberg, Jun-Ho Jang, Nan Wang, Hongseok Ha, Maria A. Picchi, Yong Lin, Raymond J. Langley, Clifford F. Qualls et al. · 2016 · Human Genomics
- Three structurally related Copper complexes with two isomers: DNA/BSA binding ability, DNA cleavage activity and excellent cytotoxicityDongyan Zhang, Yan Nie, Hui Sang, Jing‐Jing Suo, Zongjin Li, Wen Gu, Jin‐Lei Tian, Xin Liu, Shi‐Ping Yan · 2016 · Inorganica Chimica Acta
- Ultraconserved Elements Occupy Specific Arenas of Three-Dimensional Mammalian Genome OrganizationRuth B. McCole, Jelena Erceg, Wren Saylor, Chao-ting Wu · 2018 · Cell Reports
- Improved in situ sequencing for high-resolution targeted spatial transcriptomic analysis in tissue sectionsXinbin Tang, Jiayu Chen, Xinya Zhang, Xuzhu Liu, Zhaoxiang Xie, Kaipeng Wei, Jianlong Qiu, Weiyan Ma, Chen Lin, Rongqin Ke · 2023 · Journal of genetics and genomics/Journal of Genetics and Genomics
- Sarcomere Gene Mutations in Hypertrophy and Heart FailureHiroyuki Morita, Ryozo Nagai, Jonathan G. Seidman, Christine E. Seidman · 2010 · Journal of Cardiovascular Translational Research
- Evaluating the Strength of Genomic Privacy MetricsIsabel Wagner · 2017 · ACM Transactions on Privacy and Security
- Inference Attacks against Kin Genomic PrivacyErman Ayday, Mathias Humbert · 2017 · IEEE Security & Privacy
- Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer riskMichael R. Speicher, Jochen B. Geigl, Ian P.M. Tomlinson · 2010 · The Lancet Oncology
- Inference attacks against differentially private query results from genomic datasets including dependent tuplesNour Almadhoun Alserr, Erman Ayday, Özgür Ulusoy · 2020 · Bioinformatics
- Whole-Genome Sequencing of Common Salivary Gland Carcinomas: Subtype-Restricted and Shared Genetic AlterationsTatiana V. Karpinets, Yoshitsugu Mitani, Bin Liu, Jianhua Zhang, Kristen B. Pytynia, Linton D. Sellen, Danice T. Karagiannis, Renata Ferrarotto, P. Andrew Futreal, Adel K. El‐Naggar · 2021 · Clinical Cancer Research
- Massively Parallel Sequencing Reveals an Accumulation of De Novo Mutations and an Activating Mutation of LPAR1 in a Patient with Metastatic NeuroblastomaJun Stephen Wei, Peter A. Johansson, Li Chen, Young Song, Catherine Tolman, Samuel Li, Laura Hurd, Rajesh Patidar, Xinyu Wen, Thomas Badgett et al. · 2013 · PLoS ONE
- Short Read (Next-Generation) SequencingJaya Punetha, Eric P. Hoffman · 2013 · Circulation Cardiovascular Genetics
- Identification of Intragenic Exon Deletions and Duplication ofTCF12by Whole Genome or Targeted Sequencing as a Cause ofTCF12-Related CraniosynostosisJacqueline A.C. Goos, Aimée L Fenwick, Sigrid M. A. Swagemakers, Simon J. McGowan, Samantha J.L. Knight, Stephen R.F. Twigg, A. Jeannette M. Hoogeboom, Marieke F. van Dooren, Frank J. Magielsen, Steven Arthur Wall et al. · 2016 · Human Mutation
- Microbial OmicsCassiana S. de Sousa, Syed Shah Hassan, Anne Cybelle Pinto, Wanderson Marques da Silva, Sintia Silva de Almeida, Siomar de Castro Soares, Marcela Santiago Pacheco de Azevedo, Clarissa Santos Rocha, Debmalya Barh, Vasco Azevedo · 2018 · Elsevier eBooks
- An ABC Method for Whole-Genome Sequence Data: Inferring Paleolithic and Neolithic Human ExpansionsFlora Jay, Simon Boitard, Frédéric Austerlitz · 2019 · Molecular Biology and Evolution
- Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approachIoannis L. Karageorgos, Clint Mizzi, Efstathia Giannopoulou, Cristiana Pavlidis, Brock A. Peters, Zoi Zagoriti, Peter D. Stenson, Konstantinos A. Mitropoulos, Joseph Borg, Haralabos P. Kalofonos et al. · 2015 · Human Genomics
- Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsCatherine A. Brownstein, Alan H. Beggs, Lance H. Rodan, Jiahai Shi, Meghan C. Towne, Renée C. Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan D. Picker et al. · 2015 · Neurogenetics
- Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platformsJunhua Rao, Lihua Peng, Xinming Liang, Hui Jiang, Chunyu Geng, Xia Zhao, Xin Liu, Guangyi Fan, Fang Chen, Feng Mu · 2020 · BMC Bioinformatics
- Comparative Performance of the MGISEQ-2000 and Illumina X-Ten Sequencing Platforms for PaleogenomicsKongyang Zhu, Panxin Du, Jianxue Xiong, Xiaoying Ren, Chang Sun, Yichen Tao, Yi Ding, Yiran Xu, Hailiang Meng, Chuan‐Chao Wang et al. · 2021 · Frontiers in Genetics
- Introduction to the principles and methods underlying the recovery of metagenome‐assembled genomes from metagenomic dataGleb Goussarov, Mohamed Mysara, Peter A. R. Vandamme, Rob Van Houdt · 2022 · MicrobiologyOpen
- Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia et al. · 2022 · Nature Communications
- Investigative pathology: leading the post-genomic revolutionDavid Monty Berman, Marcus Bosenberg, Robin Orwant, Beth L. Thurberg, Giulio Francesco Draetta, Christopher D.�M. Fletcher, Massimo F. Loda · 2011 · Laboratory Investigation
- Biological big-data sources, problems of storage, computational issues, and applications: a comprehensive reviewJyoti Kant Choudhari, Shubham Pant, Richa Jha, Rajesh Kumar Pathak, Dev Bukhsh Singh · 2024 · Knowledge and Information Systems
- Applications of Nanotechnology for Spatial Omics: Biological Structures and Functions at Nanoscale ResolutionRuixuan Wang, Waylon James Hastings, Julian G. Saliba, Duran Bao, Yuanyu Huang, Sudipa Maity, Omar M.K. Ahmad, Logan Hu, Shengyu Wang, Jia Fan et al. · 2024 · ACS Nano
- Next Generation DNA Sequencing (II): Techniques, ApplicationsWilhelm J. Ansorge · 2015 · Journal of Next Generation Sequencing & Applications
- Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assayZirui Dong, Xia Zhao, Qiaoling Li, Zhenjun Yang, Yang Xi, Andrei Alexeev, Hanjie Shen, Ou Wang, Jie Ruan, Han Ren et al. · 2019 · DNA Research
- A comprehensive resequence‐analysis of 250 kb region of 8q24.21 in men of African ancestryCharles C. Chung, Ann W. Hsing, Edward D. Yeboah, Richard Bekoe Biritwum, Yao Tettey, Andrew A. Adjei, Michael B. Cook, Angelo De Marzo, George Jabboure Netto, Evelyn Tay et al. · 2014 · The Prostate
- Kuwaiti population subgroup of nomadic Bedouin ancestry—Whole genome sequence and analysisSumi Elsa John, Gaurav Thareja, Prashantha Hebbar, Kazem Behbehani, Thangavel Alphonse Thanaraj, Osama A Alsmadi · 2014 · Genomics Data
- Personal genomes, quantitative dynamic omics and personalized medicineGeorge I. Mias, Michael P. Snyder · 2013 · Quantitative Biology
- A Genome-Wide Survey of Genetic Variation in Gorillas Using Reduced Representation SequencingAylwyn Scally, Bryndís Yngvadóttir, Yali Xue, Qasim Ayub, Richard Michael Durbin, Chris Tyler‐Smith · 2013 · PLoS ONE
- Rapid incorporation kinetics and improved fidelity of a novel class of 3′-OH unblocked reversible terminatorsAndrew F. Gardner, Jinchun Wang, Weidong Wu, Jennifer Karouby, Hong Li, Brian P. Stupi, William E. Jack, Megan N. Hersh, Michael L. Metzker · 2012 · Nucleic Acids Research
- Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statisticAndriy Derkach, Theodore Chiang, Jiafen Gong, Laura Addis, Sara E. Dobbins, Ian P.M. Tomlinson, Richard S. Houlston, Deb K. Pal, Lisa J. Strug · 2014 · Bioinformatics
- Whole Genome Sequencing of Newly Established Pancreatic Cancer Lines Identifies Novel Somatic Mutation (c.2587G>A) in Axon Guidance Receptor Plexin A1 as Enhancer of Proliferation and InvasionRebecca A. Sorber, Yaroslav Teper, Abisola Abisoye-Ogunniyan, Joshua J. Waterfall, Sean R. Davis, J. Keith Killian, Marbin A. Pineda, Satyajit Ray, Matthew McCord, Holger Pflicke et al. · 2016 · PLoS ONE
- Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden deathNajim Lahrouchi, Elisabeth M. Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally‐Ann B. Clur, Karin Y. van Spaendonck‐Zwarts, Alex Vincent Postma, Abdelaziz Sefiani et al. · 2017 · European Journal of Human Genetics
- Deceptive morphologic and epigenetic heterogeneity in diffuse intrinsic pontine gliomaMarianna Bugiani, Sophie E. M. Veldhuijzen van Zanten, Viola Caretti, Pepijn Schellen, Eleonora Aronica, David P. Noske, William Peter Vandertop, Gertjan J.L. Kaspers, Dannis Gilbert van Vuurden, Pieter Wesseling et al. · 2017 · Oncotarget
- Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patientsKonstantinos A. Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, Angeliki Balasopoulou, Kyriaki Charalampidou, Vasiliki Galani, Krystallia-Vassiliki Zafeiri, Efthimios Dardiotis, Styliani Ralli, Georgia Deretzi et al. · 2017 · Human Genomics
- Comparison of the DNBSEQ platform and Illumina HiSeq 2000 for bacterial genome assemblyTongyuan Hu, Jianwei Chen, Xiaoqian Lin, Wenxin He, Hewei Liang, Mengmeng Wang, Wenxi Li, Zhinan Wu, Mo Han, Xin Jin et al. · 2024 · Scientific Reports
- Rare Variants inPLD3Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium CohortRita Cacace, Tobi Van den Bossche, Sebastiaan Engelborghs, Nathalie Geerts, Annelies Laureys, Lubina Dillen, Caroline Graff, Håkan Thonberg, Huei‐Hsin Chiang, Pau Pástor et al. · 2015 · Human Mutation