Description:
PERSONAL GENOME PROJECT
|
Repository
|
No Data
|
| Subcollection |
Apparently Healthy Collection
PIGI Consented Sample |
|
License Required
|
No Data
|
|
Sample Source
|
No Data
|
|
Subject Type
|
No Data
|
|
Family Type
|
No Data
|
|
Ethnicity
|
No Data
|
|
Family Member
|
No Data
|
|
Genetic Data
|
No Data
|
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 biotechnology15:19070 2025 |
| PubMed ID: 38740992 |
| |
| 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 |
| |
| Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC, Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes NPJ genomic medicine9:66 2024 |
| PubMed ID: 39695126 |
| |
| 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 genetics9:66 2022 |
| PubMed ID: 35394024 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 : JMD23:1399-1415 2019 |
| PubMed ID: 31445212 |
| |
| 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 biotechnology23:1399-1415 2019 |
| PubMed ID: 32541958 |
| |
| 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 |
| |
| 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 |
| |
| 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 : JMD15:e1008369 2018 |
| PubMed ID: 30610921 |
| |
| 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 |
|
|