• Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12878).
  

PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=23325432; DOI=10.1101/gr.147942.112; PMCID=PMC3589544
Varley K.E., Gertz J., Bowling K.M., Parker S.L., Reddy T.E., Pauli-Behn F., Cross M.K., Williams B.A., Stamatoyannopoulos J.A., Crawford G.E., Absher D.M., Wold B.J., Myers R.M.
Dynamic DNA methylation across diverse human cell lines and tissues.
Genome Res. 23:555-567(2013)

PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121
Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J., Tang H., Snyder M.P.
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=24185094; DOI=10.1038/nbt.2728; PMCID=PMC4180835
Selvaraj S., Dixon J.R., Bansal V., Ren B.
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing.
Nat. Biotechnol. 31:1111-1118(2013)

PubMed=24380390; DOI=10.1186/gb-2013-14-12-r148; PMCID=PMC4056453
Schwalie P.C., Ward M.C., Cain C.E., Faure A.J., Gilad Y., Odom D.T., Flicek P.
Co-binding by YY1 identifies the transcriptionally active, highly conserved set of CTCF-bound regions in primate genomes.
Genome Biol. 14:R148.1-R148.15(2013)

PubMed=26719794; DOI=10.1186/s13742-015-0106-1; PMCID=PMC4696294
Teo A.S.M., Verzotto D., Yao F., Nagarajan N., Hillmer A.M.
Single-molecule optical genome mapping of a human HapMap and a colorectal cancer cell line.
GigaScience 4:65.1-65.6(2015)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

PubMed=27792722; DOI=10.1371/journal.pcbi.1005151; PMCID=PMC5085092
Dilthey A.T., Gourraud P.-A., Mentzer A.J., Cereb N., Iqbal Z., McVean G.A.T.
High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs.
PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016)

CLPUB00604
Chow S.
Targeted capture and sequencing of immunoglobulin rearrangements in multiple myeloma to enable detection of minimal residual disease.
Thesis MSc (2017); University of Toronto; Toronto; Canada

PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018
Garieri M., Delaneau O., Santoni F.A., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A.
The effect of genetic variation on promoter usage and enhancer activity.
Nat. Commun. 8:1358.1-1358.9(2017)

PubMed=29431738; DOI=10.1038/nbt.4060; PMCID=PMC5889714
Jain M., Koren S., Miga K.H., Quick J., Rand A.C., Sasani T.A., Tyson J.R., Beggs A.D., Dilthey A.T., Fiddes I.T., Malla S., Marriott H., Nieto T., O'Grady J., Olsen H.E., Pedersen B.S., Rhie A., Richardson H., Quinlan A.R., Snutch T.P., Tee L., Paten B., Phillippy A.M., Simpson J.T., Loman N.J., Loose M.W.
Nanopore sequencing and assembly of a human genome with ultra-long reads.
Nat. Biotechnol. 36:338-345(2018)

PubMed=30485824; DOI=10.1016/j.celrep.2018.10.096; PMCID=PMC6481945
Papp E., Hallberg D., Konecny G.E., Bruhm D.C., Adleff V., Noe M., Kagiampakis I., Palsgrove D., Conklin D., Kinose Y., White J.R., Press M.F., Drapkin R.I., Easwaran H., Baylin S.B., Slamon D.J., Velculescu V.E., Scharpf R.B.
Integrated genomic, epigenomic, and expression analyses of ovarian cancer cell lines.
Cell Rep. 25:2617-2633(2018)

PubMed=31273215; DOI=10.1038/s41597-019-0116-4; PMCID=PMC6609777
Osorio D., Yu X., Yu P., Serpedin E., Cai J.J.
Single-cell RNA sequencing of a European and an African lymphoblastoid cell line.
Sci. Data 6:112-112(2019)

PubMed=31401124; DOI=10.1016/j.jmoldx.2019.06.007; PMCID=PMC6854474
Gaedigk A., Turner A., Everts R.E., Scott S.A., Aggarwal P., Broeckel U., McMillin G.A., Melis R., Boone E.C., Pratt V.M., Kalman L.V.
Characterization of reference materials for genetic testing of CYP2D6 alleles: a GeT-RM collaborative project.
J. Mol. Diagn. 21:1034-1052(2019)

PubMed=36094314; DOI=10.1128/JVI.00739-22; PMCID=PMC9517713
Ding W.-Y., Wang C., Narita Y., Wang H.-B., Leong M.M.L., Huang A., Liao Y.-F., Liu X.-F., Okuno Y., Kimura H., Gewurz B.E., Teng M.-X., Jin S.-L., Sato Y., Zhao B.
The Epstein-Barr virus enhancer interaction landscapes in virus-associated cancer cell lines.
J. Virol. 96:e00739.22.1-e00739.22.11(2022)