Description:
CEPH/UTAH PEDIGREE 1463
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
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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Family Member
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1
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Relation to Proband
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father
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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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| 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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| 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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| 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 medicine7:392 2022 |
| PubMed ID: 36346469 |
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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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| 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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| 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 genetics50:e63 2021 |
| PubMed ID: 35394024 |
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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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| Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE, Haplotype-resolved diverse human genomes and integrated analysis of structural variation Science (New York, NY)372:1678-1691 2020 |
| PubMed ID: 33632895 |
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| Ormond C, Ryan NM, Corvin A, Heron EA, Converting single nucleotide variants between genome builds: from cautionary tale to solution Briefings in bioinformatics372:1678-1691 2020 |
| PubMed ID: 33822888 |
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| Miyao A, Kiyomiya JS, Iida K, Doi K, Yasue H, Polymorphic edge detection (PED): two efficient methods of polymorphism detection from next-generation sequencing data BMC bioinformatics20:362 2019 |
| PubMed ID: 31253084 |
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| Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR, Association of CNVs with methylation variation NPJ genomic medicine5:41 2019 |
| PubMed ID: 33062306 |
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| Johnston AD, Simões-Pires CA, Thompson TV, Suzuki M, Greally JM, Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding Nature communications10:3472 2018 |
| PubMed ID: 31375681 |
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| Kim D, Paggi JM, Park C, Bennett C, Salzberg SL, Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype Nature biotechnology37:907-915 2018 |
| PubMed ID: 31375807 |
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| Michael J. Keogh, Wei Wei, Juvid Aryaman, Lauren Walker, Jelle van den Ameele, Jon Coxhead, Ian Wilson, Matthew Bashton, Jon Beck, John West, Richard Chen, Christian Haudenschild, Gabor Bartha, Shujun Luo, Chris M. Morris, Nick S. Jones, Johannes Attems & Patrick F. Chinnery, High prevalence of focal and multi-focal somatic genetic variants in the human brain Nature Communications9:4257 2018 |
| PubMed ID: 30323172 |
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| Valsesia A, Kulkarni SS, Marquis J, Leone P, Mironova P, Walter O, Hjorth MF, Descombes P, Hager J, Saris WH, Astrup A, Darimont C, O'Callaghan NJ, Salivary a-amylase copy number is not associated with weight trajectories and glycemic improvements following clinical weight loss: results from a 2-phase dietary intervention study The American journal of clinical nutrition109:1029-1037 2018 |
| PubMed ID: 30982860 |
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| Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017 |
| PubMed ID: 29483503 |
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| Peters BA1, Kermani BG, Sparks AB, Alferov O, Hong P, Alexeev A, Jiang Y, Dahl F, Tang YT, Haas J, Robasky K, Zaranek AW, Lee JH, Ball MP, Peterson JE, Perazich H, Yeung G, Liu J, Chen L, Kennemer MI, Pothuraju K, Konvicka K, Tsoupko-Sitnikov M, Pant KP, Ebert JC, Nilsen GB, Baccash J, Halpern AL, Church GM, Drmanac R., Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature487(7406):190-5 2012 |
| PubMed ID: 22785314 |
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