Description:
CEPH/UTAH PEDIGREE 1463
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 01
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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UTAH/MORMON
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Country of Origin
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USA
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Mother; donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream, resulting in a truncated, nonfunctional protein. Because of the aberrant splice site, a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682), resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region. |
| Quail MA, Corton C, Uphill J, Keane J, Gu Y, Identifying the best PCR enzyme for library amplification in NGS Microbial genomics10: 2024 |
| PubMed ID: 38578268 |
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| Xu B, Gao X, Li X, Li F, Zhang Z, Crosslinking intensity modulates the reliability and sensitivity of chromatin conformation detection at different structural levels Communications biology7:1216 2024 |
| PubMed ID: 39349577 |
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| Zubiaur P, Rodríguez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, Sangkuhl K, Duconge J, Botton MR, Savieo J, Nofziger C, Whirl-Carrillo M, Klein TE, Gaedigk A, PharmVar GeneFocus: CYP4F2 Clinical pharmacology and therapeutics116:963-975 2024 |
| PubMed ID: 39135485 |
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| Bai X, Chen Z, Chen K, Wu Z, Wang R, Liu J, Chang L, Wen L, Tang F, Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq Cell discovery10:74 2023 |
| PubMed ID: 38977679 |
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| Gilpatrick T, Wang JZ, Weiss D, Norris AL, Eshleman J, Timp W, IVT generation of guideRNAs for Cas9-enrichment Nanopore Sequencing bioRxiv : the preprint server for biology10:74 2023 |
| PubMed ID: 36798399 |
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| Gimeno-Valiente F, Martín-Arana J, Tébar-Martínez R, Gambardella V, Martínez-Ciarpaglini C, García-Micó B, Martínez-Castedo B, Palomar B, García-Bartolomé M, Seguí V, Huerta M, Moro-Valdezate D, Pla-Martí V, Pérez-Santiago L, Roselló S, Roda D, Cervantes A, Tarazona N, Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer ESMO open8:102051 2023 |
| PubMed ID: 37951129 |
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| Hansen T, Fong S, Capra JA, Hodges E, Human gene regulatory evolution is driven by the divergence of regulatory element function in both bioRxiv : the preprint server for biology8:102051 2023 |
| PubMed ID: 36824965 |
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| Kolekar P, Balagopal V, Dong L, Liu Y, Foy S, Tran Q, Mulder H, Huskey AL, Plyler E, Liang Z, Ma J, Nakitandwe J, Gu J, Namwanje M, Maciaszek J, Payne-Turner D, Mallampati S, Wang L, Easton J, Klco JM, Ma X, SJPedPanel: A pan-cancer gene panel for childhood malignancies medRxiv : the preprint server for health sciences8:102051 2023 |
| PubMed ID: 38076942 |
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| Kotlov N, Shaposhnikov K, Tazearslan C, Chasse M, Baisangurov A, Podsvirova S, Fernandez D, Abdou M, Kaneunyenye L, Morgan K, Cheremushkin I, Zemskiy P, Chelushkin M, Sorokina M, Belova E, Khorkova S, Lozinsky Y, Nuzhdina K, Vasileva E, Kravchenko D, Suryamohan K, Nomie K, Curran J, Fowler N, Bagaev A, Procrustes is a machine-learning approach that removes cross-platform batch effects from clinical RNA sequencing data Communications biology7:392 2023 |
| PubMed ID: 38555407 |
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| Kvapilova K, Misenko P, Radvanszky J, Brzon O, Budis J, Gazdarica J, Pos O, Korabecna M, Kasny M, Szemes T, Kvapil P, Paces J, Kozmik Z, Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses BMC genomics25:187 2023 |
| PubMed ID: 38365587 |
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| Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Gronska-Peski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD, Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing bioRxiv : the preprint server for biology25:187 2023 |
| PubMed ID: 36824744 |
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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 biotechnology25:187 2023 |
| PubMed ID: 38740992 |
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| Merav M, Bitensky EM, Heilbrun EE, Hacohen T, Kirshenbaum A, Golan-Berman H, Cohen Y, Adar S, Gene architecture is a determinant of the transcriptional response to bulky DNA damages Life science alliance7:187 2023 |
| PubMed ID: 38167611 |
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| Scherthan H, Geiger B, Ridinger D, Müller J, Riccobono D, Bestvater F, Port M, Hausmann M, Nano-Architecture of Persistent Focal DNA Damage Regions in the Minipig Epidermis Weeks after Acute ?-Irradiation Biomolecules13:187 2023 |
| PubMed ID: 37892200 |
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| Sun J, Su M, Ma J, Xu M, Ma C, Li W, Liu R, He Q, Su Z, Cross-platform comparisons for targeted bisulfite sequencing of MGISEQ-2000 and NovaSeq6000 Clinical epigenetics15:130 2023 |
| PubMed ID: 37582783 |
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| Sun Z, Behati S, Wang P, Bhagwate A, McDonough S, Wang V, Taylor W, Cunningham J, Kisiel J, Performance comparisons of methylation and structural variants from low-input whole-genome methylation sequencing Epigenomics15:130 2023 |
| PubMed ID: 36919677 |
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| Ueda MT, Inamo J, Miya F, Shimada M, Yamaguchi K, Kochi Y, Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response Cell genomics15:100654 2023 |
| PubMed ID: 39288763 |
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| Uppuluri L, Shi CH, Varapula D, Young E, Ehrlich RL, Wang Y, Piazza D, Mell JC, Yip KY, Xiao M, A long-read sequencing strategy with overlapping linkers on adjacent fragments (OLAF-Seq) for targeted resequencing and enrichment Scientific reports14:5583 2023 |
| PubMed ID: 38448490 |
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| Vozza G, Bonetti E, Tini G, Favalli V, Frigè G, Bucci G, De Summa S, Zanfardino M, Zapelloni F, Mazzarella L, Benchmarking and improving the performance of variant-calling pipelines with RecallME Bioinformatics (Oxford, England)39:5583 2023 |
| PubMed ID: 38092052 |
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| Wu B, Li J, Wang H, Liu J, Li J, Sun F, Feng DC, RIPK1 is aberrantly expressed in multiple B-cell cancers and implicated in the underlying pathogenesis Discover Oncology14:131 2023 |
| PubMed ID: 37462822 |
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| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X, Zoonomia Consortium† X, Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK, The functional and evolutionary impacts of human-specific deletions in conserved elements Science (New York, NY)380:eabn2253 2023 |
| PubMed ID: 37104592 |
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| Zollinger DR, Rivers E, Fine A, Huang Y, Son J, Kalyan A, Gray W, Baharian G, Hammond C, Ram R, Ringman L, Hafez D, Savel D, Patel V, Dantone M, Guo C, Childress M, Xu C, Johng D, Wallden B, Pokharel P, Camara W, Hegde PS, Hughes J, Carter C, Davarpanah N, Degaonkar V, Gupta P, Mariathasan S, Powles T, Ferree S, Dennis L, Young A, Analytical validation of a novel comprehensive genomic profiling informed circulating tumor DNA monitoring assay for solid tumors PloS one19:e0302129 2023 |
| PubMed ID: 38753705 |
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| Adolfsson E, Kling D, Gunnarsson C, Jonasson J, Gréen H, Gréen A, Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies International journal of legal medicine19:e0302129 2022 |
| PubMed ID: 36346469 |
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| Bae JH, Liu R, Roberts E, Nguyen E, Tabrizi S, Rhoades J, Blewett T, Xiong K, Gydush G, Shea D, An Z, Patel S, Cheng J, Sridhar S, Liu MH, Lassen E, Skytte AB, Gronska-Peski M, Shoag JE, Evrony GD, Parsons HA, Mayer EL, Makrigiorgos GM, Golub TR, Adalsteinsson VA, Single duplex DNA sequencing with CODEC detects mutations with high sensitivity Nature genetics55:871-879 2022 |
| PubMed ID: 37106072 |
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| Battaglia S, Dong K, Wu J, Chen Z, Najm FJ, Zhang Y, Moore MM, Hecht V, Shoresh N, Bernstein BE, Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements Nature genetics54:1504-1513 2022 |
| PubMed ID: 36195755 |
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| Chai H, Tjong H, Li P, Liao W, Wang P, Wong CH, Ngan CY, Leonard WJ, Wei CL, Ruan Y, ChIATAC is an efficient strategy for multi-omics mapping of 3D epigenomes from low-cell inputs Nature communications14:213 2022 |
| PubMed ID: 36639381 |
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| Fazel-Najafabadi M, Rallabandi HR, Singh MK, Maiti GP, Morris J, Looger LL, Nath SK, Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p131 Genes13:213 2022 |
| PubMed ID: 35741778 |
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| Feng YS, Zhang C, Chen QF, Wang Y, Kang KL, Zhao J, Ji AQ, Ye J, Wang L, Evaluation of the MHSeqTyper47 kit for forensically challenging DNA samples Forensic science international Genetics61:102763 2022 |
| PubMed ID: 35939876 |
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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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| Füllgrabe J, Gosal WS, Creed P, Liu S, Lumby CK, Morley DJ, Ost TWB, Vilella AJ, Yu S, Bignell H, Burns P, Charlesworth T, Fu B, Fordham H, Harding NJ, Gandelman O, Golder P, Hodson C, Li M, Lila M, Liu Y, Mason J, Mellad J, Monahan JM, Nentwich O, Palmer A, Steward M, Taipale M, Vandomme A, San-Bento RS, Singhal A, Vivian J, Wójtowicz N, Williams N, Walker NJ, Wong NCH, Yalloway GN, Holbrook JD, Balasubramanian S, Simultaneous sequencing of genetic and epigenetic bases in DNA Nature biotechnology12:e059021 2022 |
| PubMed ID: 36747096 |
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| Hansen TJ, Hodges E, ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome Genome research12:e059021 2022 |
| PubMed ID: 35858748 |
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| Inamo J, Suzuki A, Ueda MT, Yamaguchi K, Nishida H, Suzuki K, Kaneko Y, Takeuchi T, Hatano H, Ishigaki K, Ishihama Y, Yamamoto K, Kochi Y, Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms Nature communications15:4285 2022 |
| PubMed ID: 38806455 |
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| Karimnezhad A, Perkins TJ, Empirical Bayes single nucleotide variant-calling for next-generation sequencing data Scientific reports14:1550 2022 |
| PubMed ID: 38233494 |
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| Lopes M, Louzada S, Ferreira D, Veríssimo G, Eleutério D, Gama-Carvalho M, Chaves R, Human Satellite 1A analysis provides evidence of pericentromeric transcription BMC biology21:28 2022 |
| PubMed ID: 36755311 |
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| Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z, Integrated multi-omics for rapid rare disease diagnosis on a national scale Nature medicine29:1681-1691 2022 |
| PubMed ID: 37291213 |
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| Masset H, Ding J, Dimitriadou E, Debrock S, Tšuiko O, Smits K, Peeraer K, Voet T, Zamani Esteki M, Vermeesch JR, Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing Nucleic acids research50:e63 2022 |
| PubMed ID: 35212381 |
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| McClinton B, Watson CM, Crinnion LA, McKibbin M, Ali M, Inglehearn CF, Toomes C, Haplotyping Using Long-Range PCR and Nanopore Sequencing of Phase Variants; Lessons Learned From the ABCA4 Locus Laboratory investigation; a journal of technical methods and pathology50:100160 2022 |
| PubMed ID: 37088464 |
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| Ng JK, Vats P, Fritz-Waters E, Sarkar S, Sams EI, Padhi EM, Payne ZL, Leonard S, West MA, Prince C, Trani L, Jansen M, Vacek G, Samadi M, Harkins TT, Pohl C, Turner TN, de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project Human mutation50:100160 2022 |
| PubMed ID: 36054329 |
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| Nuwan C. Hettige, Huashan Peng, Hanrong Wu, Xin Zhang, Volodymyr Yerko, Ying Zhang, Malvin Jefri, Vincent Soubannier, Gilles Maussion, Shaima Alsuwaidi, Anjie Ni, Cecilia Rocha, Jeyashree Krishnan, Vincent McCarty, Lilit Antonyan, Andreas Schuppert, Gustavo Turecki, Edward A. Fon, Thomas M. Durcan, Carl Ernst, A protocol for full-rotation soft X-ray tomography of single cells 3519903917:475-488 2022 |
| PubMed ID: 35199039 |
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| Parteka-Tojek Z, Zhu JJ, Lee B, Jodkowska K, Wang P, Aaron J, Chew TL, Banecki K, Plewczynski D, Ruan Y, Super-resolution visualization of chromatin loop folding in human lymphoblastoid cells using interferometric photoactivated localization microscopy Scientific reports12:8582 2022 |
| PubMed ID: 35595799 |
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| Ramirez D, B Chuong E, D Dowell R, Nascent transcription upon interferon-a2 stimulation on human and rhesus macaque lymphoblastoid cell lines BMC research notes16:292 2022 |
| PubMed ID: 37885027 |
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| Shum EY, Lai JH, Li S, Lee HG, Soliman J, Raol VK, Lee CK, Fodor SPA, Fan HC, Next-Generation Digital Polymerase Chain Reaction: High-Dynamic-Range Single-Molecule DNA Counting via Ultrapartitioning Analytical chemistry94:17868-17876 2022 |
| PubMed ID: 36508568 |
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| Sinitcyn P, Richards AL, Weatheritt RJ, Brademan DR, Marx H, Shishkova E, Meyer JG, Hebert AS, Westphall MS, Blencowe BJ, Cox J, Coon JJ, Global detection of human variants and isoforms by deep proteome sequencing Nature biotechnology94:17868-17876 2022 |
| PubMed ID: 36959352 |
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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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| Tilleman L, Rubben K, Van Criekinge W, Deforce D, Van Nieuwerburgh F, Haplotyping pharmacogenes using TLA combined with Illumina or Nanopore sequencing Scientific reports12:17734 2022 |
| PubMed ID: 36273027 |
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| Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M, Human Pangenome Reference Consortium M, Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE, Increased mutation and gene conversion within human segmental duplications Nature617:325-334 2022 |
| PubMed ID: 37165237 |
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| Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP, Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia Molecular psychiatry28:475-482 2022 |
| PubMed ID: 36380236 |
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| Wright S, Zhao X, Rosikiewicz W, Mryncza S, Hyle J, Qi W, Liu Z, Yi S, Cheng Y, Xu B, Li C, Systematic characterization of the HOXA9 downstream targets in MLL-r leukemia by noncoding CRISPR screens Nature communications14:7464 2022 |
| PubMed ID: 38016946 |
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| Xu N, Shi W, Cao X, Zhou X, Jin L, Huang HF, Chen S, Xu C, Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations Journal of medical genetics14:7464 2022 |
| PubMed ID: 36707240 |
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| Yan B, Wang D, Vaisvila R, Sun Z, Ettwiller L, Methyl-SNP-seq reveals dual readouts of methylome and variome at molecule resolution while enabling target enrichment Genome research32:2079-2091 2022 |
| PubMed ID: 36332968 |
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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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| Zhong JY, Niu L, Lin ZB, Bai X, Chen Y, Luo F, Hou C, Xiao CL, High-throughput Pore-C reveals the single-allele topology and cell type-specificity of 3D genome folding Nature communications14:1250 2022 |
| PubMed ID: 36878904 |
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| Barnes AB, Keener RM, Schott BH, Wang L, Valdivia RH, Ko DC, Human genetic diversity regulating the HGG advances3:100071 2021 |
| PubMed ID: 35047856 |
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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 genetics3:100071 2021 |
| PubMed ID: 35394024 |
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| Chiu R, Rajan-Babu IS, Birol I, Friedman JM, Linked-read sequencing for detecting short tandem repeat expansions Scientific reports12:9352 2021 |
| PubMed ID: 35672336 |
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| De Witte L, Raman L, Baetens M, De Koker A, Callewaert N, Symoens S, Tilleman K, Vanden Meerschaut F, Dheedene A, Menten B, GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction Human reproduction (Oxford, England)37:1678-1691 2021 |
| PubMed ID: 35552408 |
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| Dubé MP, Lemaçon A, Barhdadi A, Lemieux Perreault LP, Oussaïd E, Asselin G, Provost S, Sun M, Sandoval J, Legault MA, Mongrain I, Dubois A, Valois D, Dedelis E, Lousky J, Choi J, Goulet E, Savard C, Chicoine LM, Cossette M, Chabot-Blanchet M, Guertin MC, de Denus S, Bouabdallaoui N, Marchand R, Bassevitch Z, Nozza A, Gaudet D, L'Allier PL, Hussin J, Boivin G, Busseuil D, Tardif JC, Genetics of symptom remission in outpatients with COVID-19 Scientific reports11:10847 2021 |
| PubMed ID: 34035401 |
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| Foox J, Nordlund J, Lalancette C, Gong T, Lacey M, Lent S, Langhorst BW, Ponnaluri VKC, Williams L, Padmanabhan KR, Cavalcante R, Lundmark A, Butler D, Mozsary C, Gurvitch J, Greally JM, Suzuki M, Menor M, Nasu M, Alonso A, Sheridan C, Scherer A, Bruinsma S, Golda G, Muszynska A, Labaj PP, Campbell MA, Wos F, Raine A, Liljedahl U, Axelsson T, Wang C, Chen Z, Yang Z, Li J, Yang X, Wang H, Melnick A, Guo S, Blume A, Franke V, Ibanez de Caceres I, Rodriguez-Antolin C, Rosas R, Davis JW, Ishii J, Megherbi DB, Xiao W, Liao W, Xu J, Hong H, Ning B, Tong W, Akalin A, Wang Y, Deng Y, Mason CE, The SEQC2 epigenomics quality control (EpiQC) study Genome biology22:332 2021 |
| PubMed ID: 34872606 |
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| Hanlon VCT, Chan DD, Hamadeh Z, Wang Y, Mattsson CA, Spierings DCJ, Coope RJN, Lansdorp PM, Construction of Strand-seq libraries in open nanoliter arrays Cell reports methods2:100150 2021 |
| PubMed ID: 35474869 |
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| Huang M, Yang Y, Wen X, Xu W, Lu N, Sun X, Tu J, Lu Z, Inferring single cell expression profiles from overlapped pooling sequencing data with compressed sensing strategy Nucleic acids research2:100150 2021 |
| PubMed ID: 34244789 |
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| Kim KL, van Galen P, Hovestadt V, Rahme GJ, Andreishcheva EN, Shinde A, Gaskell E, Jones DR, Shema E, Bernstein BE, Systematic detection of m Cell reports methods1:100150 2021 |
| PubMed ID: 34734208 |
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| Klein SG, Alsolami SM, Arossa S, Ramos-Mandujano G, Parry AJ, Steckbauer A, Duarte CM, Li M, In situ monitoring reveals cellular environmental instabilities in human pluripotent stem cell culture Communications biology5:119 2021 |
| PubMed ID: 35136190 |
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| Lang J, Sun J, Yang Z, He L, He Y, Chen Y, Huang L, Li P, Li J, Qin L, Nano2NGS-Muta: a framework for converting nanopore sequencing data to NGS-liked sequencing data for hotspot mutation detection NAR genomics and bioinformatics4:lqac033 2021 |
| PubMed ID: 35464239 |
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| Lin JH, Chen S, Pallavajjala A, Guedes LB, Lotan TL, Bacher JW, Eshleman JR, Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability The Journal of molecular diagnostics : JMD24:144-157 2021 |
| PubMed ID: 34864149 |
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| Liu Z, Naler LB, Zhu Y, Deng C, Zhang Q, Zhu B, Zhou Z, Sarma M, Murray A, Xie H, Lu C, nMOWChIP-seq: low-input genome-wide mapping of non-histone targets NAR genomics and bioinformatics4:lqac030 2021 |
| PubMed ID: 35402909 |
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| Llimos G, Gardeux V, Koch U, Kribelbauer JF, Hafner A, Alpern D, Pezoldt J, Litovchenko M, Russeil J, Dainese R, Moia R, Mahmoud AM, Rossi D, Gaidano G, Plass C, Lutsik P, Gerhauser C, Waszak SM, Boettiger A, Radtke F, Deplancke B, A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation Nature communications13:2042 2021 |
| PubMed ID: 35440565 |
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| Marasco LE, Dujardin G, Sousa-Luís R, Liu YH, Stigliano JN, Nomakuchi T, Proudfoot NJ, Krainer AR, Kornblihtt AR, Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy Cell185:2057-2070.e15 2021 |
| PubMed ID: 35688133 |
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| Massey DJ, Koren A, High-throughput analysis of single human cells reveals the complex nature of DNA replication timing control Nature communications13:2402 2021 |
| PubMed ID: 35504890 |
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| McDonald TL, Zhou W, Castro CP, Mumm C, Switzenberg JA, Mills RE, Boyle AP, Cas9 targeted enrichment of mobile elements using nanopore sequencing Nature communications12:3586 2021 |
| PubMed ID: 34117247 |
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| Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J, Xu C, Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission Molecular genetics & genomic medicine12:e1763 2021 |
| PubMed ID: 34296532 |
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| Peng R, Zhang R, Li J, Continual Improvement of the Reliability of Next-Generation Sequencing-Based ctDNA Analysis: A Long-Term Comparison of ctDNA Detection in China Clinical chemistry68:940-952 2021 |
| PubMed ID: 35687601 |
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