Description:
PERSONAL GENOME PROJECT
HIPSC PARENTAL CELL LINE DNA - PLATE OF DNA SAMPLES
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Repository
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| Subcollection |
Apparently Healthy Collection
PIGI Consented Sample |
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License Required
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Sample Source
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Subject Type
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Family Type
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Ethnicity
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Family Member
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Genetic Data
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| Anton KA, Heide T, Powalowska-Pickton PK, Lowy-Gallego E, Lovell A, Andreazza S, Christoforou E, Gregg J, Hackinger S, Stolarek-Januszkiewicz M, Osborne RJ, Balmforth BW, Enspyre: a novel enrichment technology for selected DNA variants using pyrophosphorolysis Nucleic acids research53: 2025 |
| PubMed ID: 40966514 |
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| Betschart RO, Thalén F, Blankenberg S, Zoche M, Zeller T, Ziegler A, A benchmark study of compression software for human short-read sequence data Scientific reports15:15358 2025 |
| PubMed ID: 40316539 |
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| Cai K, Li S, Pan M, Lu H, Wang L, Fang S, Gou L, Tang J, Kong Y, Zhao L, Ren Y, Comparative assessment of the Sikun 2000 sequencing platform for whole genome sequencing Scientific reports15:19070 2025 |
| PubMed ID: 40447879 |
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| Chen X, Ligumsky H, Ambrose C, Sibrian D, Tran B, Arif D, Castellanos O, Kessner D, Luo H, Ubale M, Coleman A, Mahaganapathy V, Jönsson TJ, Basho RK, Lee JSH, Matasci N, Agus DB, Monitoring the rate and variability of somatic genomic alterations using long-read sequencing Scientific reports15:18397 2025 |
| PubMed ID: 40500302 |
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| Das K, Tay MLI, Yong EY, Chuah KL, A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours Scientific reports15:20740 2025 |
| PubMed ID: 40593313 |
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| Elliott MJ, Howarth K, Main S, Fuentes Antrás J, Echelard P, Dou A, Amir E, Nadler MB, Shah E, Yu C, Bratman S, Bird T, Roh J, de Bruin EC, Rushton C, Chen Y, Gladchuk S, George AM, Birkeälv S, Alcaide M, Oton L, Putcha G, Woodhouse S, Bedard PL, Siu LL, Berman HK, Cescon DW, Ultrasensitive Detection and Monitoring of Circulating Tumor DNA Using Structural Variants in Early-Stage Breast Cancer Clinical cancer research : an official journal of the American Association for Cancer Research31:1520-1532 2025 |
| PubMed ID: 39785866 |
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| Emiliani FE, Ismail AAO, Hughes EG, Tsongalis GJ, Zanazzi GJ, Lin CC, Nanopore-based random genomic sampling for intraoperative molecular diagnosis Genome medicine17:6 2025 |
| PubMed ID: 39833913 |
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| Hovhannesyan K, Helou L, Charloteaux B, Jacquemin V, Piazzon F, Mni M, Flohimont C, Fasquelle C, Mashhadizadeh D, Dangouloff T, Bours V, Servais L, Palmeira L, Boemer F, Analytical Validation of a Genomic Newborn Screening Workflow International journal of neonatal screening11:6 2025 |
| PubMed ID: 41133703 |
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| Longo GMC, Sayols S, Kotini AG, Heinen S, Möckel MM, Beli P, Roukos V, Linking CRISPR-Cas9 double-strand break profiles to gene editing precision with BreakTag Nature biotechnology11:6 2025 |
| PubMed ID: 38740992 |
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| McNevin D, Watson J, Grisedale K, Dahal A, Goodwin C, Ward J, Comparison of commercial targeted amplicon sequencing assays for human remains identification casework International journal of legal medicine11:6 2025 |
| PubMed ID: 39404865 |
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| Miya F, Nakato D, Suzuki H, Yamada M, Watanabe D, Takenouchi T, Kosaki K, Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond Journal of human genetics71:13-21 2025 |
| PubMed ID: 40921766 |
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| Verner EL, Jackson JB, Maddox C, Valkenburg KC, White JR, Occean J, Morris L, Karandikar A, Gerding KMR, Sausen M, Koohestani F, Severson EA, Jensen TJ, Caveney BJ, Eisenberg M, Ramkissoon SH, Greer AE, Analytical Validation of the Labcorp Plasma Complete Test, a Cell-Free DNA Comprehensive Genomic Profiling Tool for Precision Oncology The Journal of molecular diagnostics : JMD27:216-231 2025 |
| PubMed ID: 39818317 |
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| Akamatsu S, Mitsuhashi S, Soga K, Mizukami H, Shiraishi M, Frith MC, Yamano Y, Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants Scientific reports14:25161 2024 |
| PubMed ID: 39448697 |
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| Bali GK, Cuenca D, Wallin J, Effects and considerations of multiplexing ForenSeq Kintelligence libraries with a negative control Electrophoresis45:852-866 2024 |
| PubMed ID: 38449358 |
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| Chan J, Holdstock J, Shovelton J, Reid J, Speight G, Molha D, Pullabhatla V, Carpenter S, Uddin E, Washio T, Sato H, Izumi Y, Watanabe R, Niiro H, Fukushima Y, Ashida N, Hirose T, Maeda A, Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies PloS one19:e0305422 2024 |
| PubMed ID: 38870140 |
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| Daniel R, Raymond J, Sears A, Stock A, Scudder N, Padmabandu G, Kumar SA, Snedecor J, Antunes J, Hartman D, It's all relative: A multi-generational study using ForenSeq™ Kintelligence Forensic science international364:112208 2024 |
| PubMed ID: 39232402 |
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| Pedroza Matute S, Turvey K, Iyavoo S, Advancing human genotyping: The Infinium HTS iSelect Custom microarray panel (Rita) development study Forensic science international Genetics71:103049 2024 |
| PubMed ID: 38653142 |
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| Subramanian K, Chopra M, Kahali B, Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance HGG advances5:100285 2024 |
| PubMed ID: 38521976 |
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| Watanabe D, Okamoto N, Kobayashi Y, Suzuki H, Kato M, Saitoh S, Kanemura Y, Takenouchi T, Yamada M, Nakato D, Sato M, Tsunoda T, Kosaki K, Miya F, Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis Scientific reports14:19741 2024 |
| PubMed ID: 39187681 |
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| Baid G, Cook DE, Shafin K, Yun T, Llinares-López F, Berthet Q, Belyaeva A, Töpfer A, Wenger AM, Rowell WJ, Yang H, Kolesnikov A, Ammar W, Vert JP, Vaswani A, McLean CY, Nattestad M, Chang PC, Carroll A, DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer Nature biotechnology14:19741 2023 |
| PubMed ID: 36050551 |
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| Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023 |
| PubMed ID: 37301971 |
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| Verner EL, Jackson JB, Severson E, Valkenburg KC, Greer AE, Riley DR, Sausen M, Maddox C, McGregor PM, Karandikar A, Hastings SB, Previs RA, Reddy VP, Jensen TJ, Ramkissoon SH, Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors The Journal of molecular diagnostics : JMD21:378 2023 |
| PubMed ID: 37068734 |
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| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics21:378 2022 |
| PubMed ID: 35394024 |
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| Forgetta V, Li R, Darmond-Zwaig C, Belisle A, Balion C, Roshandel D, Wolfson C, Lettre G, Pare G, Paterson AD, Griffith LE, Verschoor C, Lathrop M, Kirkland S, Raina P, Richards JB, Ragoussis J, Cohort profile: genomic data for 26 622 individuals from the Canadian Longitudinal Study on Aging (CLSA) BMJ open12:e059021 2022 |
| PubMed ID: 35273064 |
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| Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q, Human Genome Structural Variation Consortium (HGSVC) Q, Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO, Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders Cell12:e059021 2022 |
| PubMed ID: 35525246 |
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| Sakamoto Y, Miyake S, Oka M, Kanai A, Kawai Y, Nagasawa S, Shiraishi Y, Tokunaga K, Kohno T, Seki M, Suzuki Y, Suzuki A, Phasing analysis of lung cancer genomes using a long read sequencer Nature communications13:3464 2022 |
| PubMed ID: 35710642 |
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| Steiert TA, Fuß J, Juzenas S, Wittig M, Hoeppner MP, Vollstedt M, Varkalaite G, ElAbd H, Brockmann C, Görg S, Gassner C, Forster M, Franke A, High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing NAR genomics and bioinformatics4:lqac051 2022 |
| PubMed ID: 35855323 |
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| Wils G, Helsmoortel C, Volders PJ, Vereecke I, Milazzo M, Vandesompele J, Coppieters F, De Leeneer K, Lefever S, Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow Molecular diagnosis & therapy26:411-419 2022 |
| PubMed ID: 35633488 |
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| Yao X, Zhou Z, Xie Y, Huang Z, Lu S, Liu C, Wang J, Li X, Methodology established for the detection of circulating tumor DNA by hybridization capture BioTechniques73:151-158 2022 |
| PubMed ID: 36065956 |
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| Eslami Rasekh M, Hernández Y, Drinan SD, Fuxman Bass JI, Benson G, Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences Nucleic acids research49:4308-4324 2021 |
| PubMed ID: 33849068 |
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| Ralf A, Zandstra D, Weiler N, van Ijcken WFJ, Sijen T, Kayser M, RMplex: An efficient method for analyzing 30 Y-STRs with high mutation rates Forensic science international Genetics55:102595 2021 |
| PubMed ID: 34543845 |
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| Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM, ACMG Laboratory Quality Assurance Committee LM, Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Genetics in medicine : official journal of the American College of Medical Genetics23:1399-1415 2021 |
| PubMed ID: 33927380 |
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| Min YK, Lee YK, Nam SH, Kim JK, Park KS, Kim JW, Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential Clinical chemistry23:1399-1415 2020 |
| PubMed ID: 32395759 |
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| Park J, Kim HS, Lee JM, Jung J, Kang D, Choi H, Lee GD, Son J, Park S, Cho BS, Kim HJ, Kim S, Lee JW, Chung NG, Cho B, Zhang H, Khazanov NA, Choi J, Jung JW, Kim Y, Kim M, Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms Molecular diagnosis & therapy23:1399-1415 2020 |
| PubMed ID: 32676933 |
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| Shafin K, Pesout T, Lorig-Roach R, Haukness M, Olsen HE, Bosworth C, Armstrong J, Tigyi K, Maurer N, Koren S, Sedlazeck FJ, Marschall T, Mayes S, Costa V, Zook JM, Liu KJ, Kilburn D, Sorensen M, Munson KM, Vollger MR, Monlong J, Garrison E, Eichler EE, Salama S, Haussler D, Green RE, Akeson M, Phillippy A, Miga KH, Carnevali P, Jain M, Paten B, Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes Nature biotechnology38:1044-1053 2020 |
| PubMed ID: 32686750 |
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| Atkins A, Gupta P, Zhang BM, Tsai WS, Lucas J, Javey M, Vora A, Mei R, Detection of Circulating Tumor DNA with a Single-Molecule Sequencing Analysis Validated for Targeted and Immunotherapy Selection Molecular diagnosis & therapy38:1044-1053 2019 |
| PubMed ID: 31209714 |
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| Chen Z, Pham L, Wu TC, Mo G, Xia Y, Chang PL, Porter D, Phan T, Che H, Tran H, Bansal V, Shaffer J, Belda-Ferre P, Humphrey G, Knight R, Pevzner P, Pham S, Wang Y, Lei M, Ultra-low input single tube linked-read library method enables short-read second-generation sequencing systems to generate highly accurate and economical long-range sequencing information routinely Genome research38:1044-1053 2019 |
| PubMed ID: 32540955 |
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| Fujiki R, Ikeda M, Ohara O, Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing The Journal of molecular diagnostics : JMD38:1044-1053 2019 |
| PubMed ID: 31445212 |
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| Lazzarotto CR, Malinin NL, Li Y, Zhang R, Yang Y, Lee G, Cowley E, He Y, Lan X, Jividen K, Katta V, Kolmakova NG, Petersen CT, Qi Q, Strelcov E, Maragh S, Krenciute G, Ma J, Cheng Y, Tsai SQ, CHANGE-seq reveals genetic and epigenetic effects on CRISPR-Cas9 genome-wide activity Nature biotechnology38:1044-1053 2019 |
| PubMed ID: 32541958 |
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| McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ, kConFab MJ, Development and validation of a targeted gene sequencing panel for application to disparate cancers Scientific reports9:17052 2019 |
| PubMed ID: 31745186 |
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| Vegesna R, Tomaszkiewicz M, Medvedev P, Makova KD, Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes PLoS genetics15:e1008369 2019 |
| PubMed ID: 31525193 |
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| Yavas G, Hong H, Xiao W, dnAQET: a framework to compute a consolidated metric for benchmarking quality of de novo assemblies BMC genomics20:706 2019 |
| PubMed ID: 31510940 |
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| Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS, A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing The Journal of molecular diagnostics : JMD20:706 2018 |
| PubMed ID: 30610921 |
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| Peng Q, Xu C, Kim D, Lewis M, DiCarlo J, Wang Y, Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI Scientific reports9:4810 2018 |
| PubMed ID: 30886209 |
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| Soukupova J, Zemankova P, Lhotova K, Janatova M, Borecka M, Stolarova L, Lhota F, Foretova L, Machackova E, Stranecky V, Tavandzis S, Kleiblova P, Vocka M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z, Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes PloS one13:e0195761 2017 |
| PubMed ID: 29649263 |
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