Zitieren

Durmaz AA, Karaca E, Demkow U, Toruner G, Schoumans J, Cogulu O. Evolution of genetic techniques: past, present, and beyond. Biomed Res Int. 2015; 2015:461524. doi: 10.1155/2015/461524 DurmazAA KaracaE DemkowU TorunerG SchoumansJ CoguluO Evolution of genetic techniques: past, present, and beyond Biomed Res Int. 2015 2015 461524 10.1155/2015/461524 Open DOISearch in Google Scholar

Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J. Genome annotation for clinical genomic diagnostics: strengths and weaknesses. Genome Med. 2017; 9:49. doi: 10.1186/s13073-017-0441-1 StewardCA ParkerAPJ MinassianBA SisodiyaSM FrankishA HarrowJ Genome annotation for clinical genomic diagnostics: strengths and weaknesses Genome Med. 2017 9 49 10.1186/s13073-017-0441-1 Open DOISearch in Google Scholar

Miller JE, Veturi Y, Ritchie MD. Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes. Bio Data Min. 2019; 12:10. doi: 10.1186/s13040-019-0197-9 MillerJE VeturiY RitchieMD Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes Bio Data Min. 2019 12 10 10.1186/s13040-019-0197-9 Open DOISearch in Google Scholar

Ramos EM, Hoffman D, Junkins HA, Maglott D, Phan L, Sherry ST, et al. Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources. Eur J Hum Genet. 2014; 22:144–7. RamosEM HoffmanD JunkinsHA MaglottD PhanL SherryST Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources Eur J Hum Genet. 2014 22 144 7 Search in Google Scholar

Samuels DC, Yu H, Guo Y. Is it time to reassess variant annotation? Trends Genet. 2022; 38:521–3. SamuelsDC YuH GuoY Is it time to reassess variant annotation? Trends Genet. 2022 38 521 3 Search in Google Scholar

Hebbar P, Sowmya SK, editors. Genomic variant annotation: a comprehensive review of tools and techniques. Cham: Springer International Publishing; 2022. HebbarP SowmyaSK editors. Genomic variant annotation: a comprehensive review of tools and techniques Cham Springer International Publishing 2022 Search in Google Scholar

Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42:D980–5. LandrumMJ LeeJM RileyGR JangW RubinsteinWS ChurchDM MaglottDR ClinVar: public archive of relationships among sequence variation and human phenotype Nucleic Acids Res. 2014 42 D980 5 Search in Google Scholar

MacArthur JA, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, et al. Locus reference genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Res. 2014; 42:D873–8. MacArthurJA MoralesJ TullyRE AstashynA GilL BrufordEA Locus reference genomic: reference sequences for the reporting of clinically relevant sequence variants Nucleic Acids Res. 2014 42 D873 8 Search in Google Scholar

Sosnay PR, Cutting GR. Interpretation of genetic variants. Thorax. 2014; 69:295–7. SosnayPR CuttingGR Interpretation of genetic variants Thorax. 2014 69 295 7 Search in Google Scholar

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017; 19:4–23. LiMM DattoM DuncavageEJ KulkarniS LindemanNI RoyS Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, American Society of Clinical Oncology, and College of American Pathologists J Mol Diagn. 2017 19 4 23 Search in Google Scholar

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020; 22:245–57. RiggsER AndersenEF CherryAM KantarciS KearneyH PatelA Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Genet Med. 2020 22 245 57 Search in Google Scholar

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Correction: technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2021; 23:2230. doi: 10.1038/s41436-021-01150-9 RiggsER AndersenEF CherryAM KantarciS KearneyH PatelA Correction: technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Genet Med. 2021 23 2230 10.1038/s41436-021-01150-9 Open DOISearch in Google Scholar

Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat. 2011; 32:358–68. ThusbergJ OlatubosunA VihinenM Performance of mutation pathogenicity prediction methods on missense variants Hum Mutat. 2011 32 358 68 Search in Google Scholar

Chaitankar V, Karakülah G, Ratnapriya R, Giuste FO, Brooks MJ, Swaroop A. Next generation sequencing technology and genomewide data analysis: perspectives for retinal research. Prog Retin Eye Res. 2016; 55:1–31. ChaitankarV KarakülahG RatnapriyaR GiusteFO BrooksMJ SwaroopA Next generation sequencing technology and genomewide data analysis: perspectives for retinal research Prog Retin Eye Res. 2016 55 1 31 Search in Google Scholar

Serin EA, Nijveen H, Hilhorst HW, Ligterink W. Learning from co-expression networks: possibilities and challenges. Front Plant Sci. 2016; 7:444. doi: 10.3389/fpls.2016.00444 SerinEA NijveenH HilhorstHW LigterinkW Learning from co-expression networks: possibilities and challenges Front Plant Sci. 2016 7 444 10.3389/fpls.2016.00444 Open DOISearch in Google Scholar

Asplund A, Edqvist PH, Schwenk JM, Ponten F. Antibodies for profiling the human proteome-the human protein atlas as a resource for cancer research. Proteomics. 2012; 12:2067–77. AsplundA EdqvistPH SchwenkJM PontenF Antibodies for profiling the human proteome-the human protein atlas as a resource for cancer research Proteomics. 2012 12 2067 77 Search in Google Scholar

Lee CY, Chattopadhyay A, Chiang LM, Juang JJ, Lai LC, Tsai MH, et al. VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases. Database (Oxford). 2019; 2019:baz075. doi: 10.1093/database/baz075 LeeCY ChattopadhyayA ChiangLM JuangJJ LaiLC TsaiMH VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases Database (Oxford). 2019 2019 baz075 10.1093/database/baz075 Open DOISearch in Google Scholar

Liu X, Li C, Mou C, Dong Y, Tu Y. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med. 2020; 12:103. doi: 10.1186/s13073-020-00803-9 LiuX LiC MouC DongY TuY dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs Genome Med. 2020 12 103 10.1186/s13073-020-00803-9 Open DOISearch in Google Scholar

Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, et al. Characterizing genetic variants for clinical action. Am J Med Genet C Semin Med Genet. 2014; 166C:93–104. RamosEM Din-LovinescuC BergJS BrooksLD DuncansonA DunnM Characterizing genetic variants for clinical action Am J Med Genet C Semin Med Genet. 2014 166C 93 104 Search in Google Scholar

Riggs ER, Ledbetter DH, Martin CL. Genomic variation: lessons learned from whole-genome CNV analysis. Curr Genet Med Rep. 2014; 2:146–50. RiggsER LedbetterDH MartinCL Genomic variation: lessons learned from whole-genome CNV analysis Curr Genet Med Rep. 2014 2 146 50 Search in Google Scholar

Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, et al. Genome analysis and knowledge-driven variant interpretation with TGex. BMC Med Genomics. 2019; 12:200. doi: 10.1186/s12920-019-0647-8 DaharyD GolanY MazorY ZeligO BarshirR TwikM Genome analysis and knowledge-driven variant interpretation with TGex BMC Med Genomics. 2019 12 200 10.1186/s12920-019-0647-8 Open DOISearch in Google Scholar

Arnold M, Raffler J, Pfeufer A, Suhre K, Kastenmüller G. SNiPA: an interactive, genetic variant-centered annotation browser. Bioinformatics. 2015; 31:1334–6. ArnoldM RafflerJ PfeuferA SuhreK KastenmüllerG SNiPA: an interactive, genetic variant-centered annotation browser Bioinformatics. 2015 31 1334 6 Search in Google Scholar

Sayers EW, Beck J, Brister JR, Bolton EE, Canese K, Comeau DC, et al. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 2020; 48(D1):D9–D16. SayersEW BeckJ BristerJR BoltonEE CaneseK ComeauDC Database resources of the National Center for Biotechnology Information Nucleic Acids Res. 2020 48 D1 D9 D16 Search in Google Scholar

Sayers EW, Beck J, Bolton EE, Bourexis D, Brister JR, Canese K, et al. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 2021; 49(D1):D10–D7. SayersEW BeckJ BoltonEE BourexisD BristerJR CaneseK Database resources of the National Center for Biotechnology Information Nucleic Acids Res. 2021 49 D1 D10 D7 Search in Google Scholar

Sayers EW, Bolton EE, Brister JR, Canese K, Chan J, Comeau DC, et al. Database resources of the national center for biotechnology information. Nucleic Acids Res. 2022; 50(D1):D20–D6. SayersEW BoltonEE BristerJR CaneseK ChanJ ComeauDC Database resources of the national center for biotechnology information Nucleic Acids Res. 2022 50 D1 D20 D6 Search in Google Scholar

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, et al. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017; 136:665–77. StensonPD MortM BallEV EvansK HaydenM HeywoodS The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies Hum Genet. 2017 136 665 77 Search in Google Scholar

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011; 32:557–63. FokkemaIF TaschnerPE SchaafsmaGC CelliJ LarosJF den DunnenJT LOVD v.2.0: the next generation in gene variant databases Hum Mutat. 2011 32 557 63 Search in Google Scholar

Fokkema IFAC, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT. The LOVD3 platform: efficient genome-wide sharing of genetic variants. Eur J Hum Genet. 2021; 29:1796–803. FokkemaIFAC KroonM López HernándezJA AsschemanD LugtenburgI HoogenboomJ den DunnenJT The LOVD3 platform: efficient genome-wide sharing of genetic variants Eur J Hum Genet. 2021 29 1796 803 Search in Google Scholar

Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001; 29:308–11. SherryST WardMH KholodovM BakerJ PhanL SmigielskiEM SirotkinK dbSNP: the NCBI database of genetic variation Nucleic Acids Res. 2001 29 308 11 Search in Google Scholar

Benson DA, Cavanaugh M, Clark K, Karsch-Mizrachi I, Ostell J, Pruitt KD, Sayers EW. GenBank. Nucleic Acids Res. 2018; 46(D1):D41–D7. BensonDA CavanaughM ClarkK Karsch-MizrachiI OstellJ PruittKD SayersEW GenBank Nucleic Acids Res. 2018 46 D1 D41 D7 Search in Google Scholar

Sayers EW, Cavanaugh M, Clark K, Pruitt KD, Schoch CL, Sherry ST, et al. GenBank. Nucleic Acids Res. 2021; 49(D1):D92–D6. SayersEW CavanaughM ClarkK PruittKD SchochCL SherryST GenBank Nucleic Acids Res. 2021 49 D1 D92 D6 Search in Google Scholar

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen – the clinical genome resource. N Engl J Med. 2015; 372:2235–42. RehmHL BergJS BrooksLD BustamanteCD EvansJP LandrumMJ ClinGen – the clinical genome resource N Engl J Med. 2015 372 2235 42 Search in Google Scholar

Yang H, Robinson PN, Wang K. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods. 2015; 12:841–3. YangH RobinsonPN WangK Phenolyzer: phenotype-based prioritization of candidate genes for human diseases Nat Methods. 2015 12 841 3 Search in Google Scholar

Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, Salgado D. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Res. 2018; 46(W1):W545–W53. DesvignesJP BartoliM DelagueV KrahnM MiltgenM BéroudC SalgadoD VarAFT: a variant annotation and filtration system for human next generation sequencing data Nucleic Acids Res. 2018 46 W1 W545 W53 Search in Google Scholar

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv. 2019:531210. doi: 10.1101/531210 KarczewskiKJ FrancioliLC TiaoG CummingsBB AlföldiJ WangQ Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes bioRxiv 2019 531210 10.1101/531210 Open DOISearch in Google Scholar

Yates AD, Achuthan P, Akanni W, Allen J, Allen J, Alvarez-Jarreta J, et al. Ensembl 2020. Nucleic Acids Res. 2020; 48(D1):D682–D8. YatesAD AchuthanP AkanniW AllenJ AllenJ Alvarez-JarretaJ Ensembl 2020 Nucleic Acids Res. 2020 48 D1 D682 D8 Search in Google Scholar

Birney E, Andrews TD, Bevan P, Caccamo M, Chen Y, Clarke L, et al. An overview of Ensembl. Genome Res. 2004; 14:925–8. BirneyE AndrewsTD BevanP CaccamoM ChenY ClarkeL An overview of Ensembl Genome Res. 2004 14 925 8 Search in Google Scholar

Zhou J, Troyanskaya OG. Predicting effects of noncoding variants with deep learning-based sequence model. Nat Methods. 2015; 12:931–4. ZhouJ TroyanskayaOG Predicting effects of noncoding variants with deep learning-based sequence model Nat Methods. 2015 12 931 4 Search in Google Scholar

Oscanoa J, Sivapalan L, Gadaleta E, Dayem Ullah AZ, Lemoine NR, Chelala C. SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update). Nucleic Acids Res. 2020; 48:W185–W92. OscanoaJ SivapalanL GadaletaE Dayem UllahAZ LemoineNR ChelalaC SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update) Nucleic Acids Res. 2020 48 W185 W92 Search in Google Scholar

Haeussler M, Zweig AS, Tyner C, Speir ML, Rosenbloom KR, Raney BJ, et al. The UCSC Genome Browser database: 2019 update. Nucleic Acids Res. 2019; 47(D1):D853–D8. HaeusslerM ZweigAS TynerC SpeirML RosenbloomKR RaneyBJ The UCSC Genome Browser database: 2019 update Nucleic Acids Res. 2019 47 D1 D853 D8 Search in Google Scholar

GTEx Consortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015; 348:648–60. GTEx Consortium Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans Science. 2015 348 648 60 Search in Google Scholar

O’Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res. 2016; 44(D1):D733–45. O’LearyNA WrightMW BristerJR CiufoS HaddadD McVeighR Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation Nucleic Acids Res. 2016 44 D1 D733 45 Search in Google Scholar

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016; 536:285–91. LekM KarczewskiKJ MinikelEV SamochaKE BanksE FennellT Analysis of protein-coding genetic variation in 60,706 humans Nature. 2016 536 285 91 Search in Google Scholar

Karolchik D, Hinrichs AS, Kent WJ. The UCSC genome browser. Curr Protoc Bioinformatics. 2009; Chapter 1:Unit1. 4. doi: 10.1002/0471250953.bi0104s28 KarolchikD HinrichsAS KentWJ The UCSC genome browser Curr Protoc Bioinformatics. 2009 Chapter 1:Unit1. 4. 10.1002/0471250953.bi0104s28 Open DOISearch in Google Scholar

Tate JG, Bamford S, Jubb HC, Sondka Z, Beare DM, Bindal N, et al. COSMIC: the Catalogue of somatic mutations in cancer. Nucleic Acids Res. 2019; 47(D1):D941–D7. TateJG BamfordS JubbHC SondkaZ BeareDM BindalN COSMIC: the Catalogue of somatic mutations in cancer Nucleic Acids Res. 2019 47 D1 D941 D7 Search in Google Scholar

Jubb HC, Saini HK, Verdonk ML, Forbes SA. COSMIC-3D provides structural perspectives on cancer genetics for drug discovery. Nat Genet. 2018; 50:1200–2. JubbHC SainiHK VerdonkML ForbesSA COSMIC-3D provides structural perspectives on cancer genetics for drug discovery Nat Genet. 2018 50 1200 2 Search in Google Scholar

Forbes SA, Bhamra G, Bamford S, Dawson E, Kok C, Clements J, et al. The catalogue of somatic mutations in cancer (COSMIC). Curr Protoc Hum Genet. 2008;Chapter 10:Unit 10. 11. doi: 10.1002/0471142905.hg1011s57 ForbesSA BhamraG BamfordS DawsonE KokC ClementsJ The catalogue of somatic mutations in cancer (COSMIC) Curr Protoc Hum Genet. 2008 Chapter 10:Unit 10. 11. 10.1002/0471142905.hg1011s57 Open DOISearch in Google Scholar

Stephanou C, Kountouris P, Tamana S, Minaidou A, Lederer CW, Kleanthous M. ITHANET: an information and database community portal for hemoglobinopathies. Hemoglobin. 2019; 43:363. StephanouC KountourisP TamanaS MinaidouA LedererCW KleanthousM ITHANET: an information and database community portal for hemoglobinopathies Hemoglobin. 2019 43 363 Search in Google Scholar

Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014; 9:e103020. doi: 10.1371/journal.pone.0103020 KountourisP LedererCW FanisP FelekiX OldJ KleanthousM IthaGenes: an interactive database for haemoglobin variations and epidemiology PLoS One. 2014 9 e103020 10.1371/journal.pone.0103020 Open DOISearch in Google Scholar

Braschi B, Denny P, Gray K, Jones T, Seal R, Tweedie S, et al. Genenames.org: the HGNC and VGNC resources in 2019. Nucleic Acids Res. 2019; 47(D1):D786–D92. BraschiB DennyP GrayK JonesT SealR TweedieS Genenames.org: the HGNC and VGNC resources in 2019 Nucleic Acids Res. 2019 47 D1 D786 D92 Search in Google Scholar

Seal RL, Gordon SM, Lush MJ, Wright MW, Bruford EA. genenames.org: the HGNC resources in 2011. Nucleic Acids Res. 2011; 39(Database issue):D514–9. SealRL GordonSM LushMJ WrightMW BrufordEA genenames.org: the HGNC resources in 2011 Nucleic Acids Res. 2011 39 Database issue D514 9 Search in Google Scholar

Tweedie S, Braschi B, Gray K, Jones TEM, Seal RL, Yates B, Bruford EA. Genenames.org: the HGNC and VGNC resources in 2021. Nucleic Acids Res. 2021; 49(D1):D939–D46. TweedieS BraschiB GrayK JonesTEM SealRL YatesB BrufordEA Genenames.org: the HGNC and VGNC resources in 2021 Nucleic Acids Res. 2021 49 D1 D939 D46 Search in Google Scholar

Zhang J, Bajari R, Andric D, Gerthoffert F, Lepsa A, Nahal-Bose H, et al. The international cancer genome consortium data portal. Nat Biotechnol. 2019; 37:367–9. ZhangJ BajariR AndricD GerthoffertF LepsaA Nahal-BoseH The international cancer genome consortium data portal Nat Biotechnol. 2019 37 367 9 Search in Google Scholar

Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, et al. The 100 000 genomes project: bringing whole genome sequencing to the NHS. BMJ. 2018; 361:k1687. doi: 10.1136/bmj.k1687 TurnbullC ScottRH ThomasE JonesL MurugaesuN PrettyFB The 100 000 genomes project: bringing whole genome sequencing to the NHS BMJ. 2018 361 k1687 10.1136/bmj.k1687 Open DOISearch in Google Scholar

Frankish A, Diekhans M, Ferreira AM, Johnson R, Jungreis I, Loveland J, et al. GENCODE reference annotation for the human and mouse genomes. Nucleic Acids Res. 2019;47(D1):D766–D73. FrankishA DiekhansM FerreiraAM JohnsonR JungreisI LovelandJ GENCODE reference annotation for the human and mouse genomes Nucleic Acids Res. 2019 47 D1 D766 D73 Search in Google Scholar

Frankish A, Diekhans M, Jungreis I, Lagarde J, Loveland JE, Mudge JM, et al. GENCODE 2021. Nucleic Acids Res. 2021; 49(D1): D916–D23. FrankishA DiekhansM JungreisI LagardeJ LovelandJE MudgeJM GENCODE 2021 Nucleic Acids Res. 2021 49 D1 D916 D23 Search in Google Scholar

Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, Kokocinski F, et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res. 2012; 22:1760–74. HarrowJ FrankishA GonzalezJM TapanariE DiekhansM KokocinskiF GENCODE: the reference human genome annotation for The ENCODE Project Genome Res. 2012 22 1760 74 Search in Google Scholar

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–24. RichardsS AzizN BaleS BickD DasS Gastier-FosterJ Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med. 2015 17 405 24 Search in Google Scholar

Shotelersuk V, Wichadakul D, Ngamphiw C, Srichomthong C, Phokaew C, Wilantho A, et al. The Thai reference exome (T-REx) variant database. Clin Genet. 2021; 100:703–12. ShotelersukV WichadakulD NgamphiwC SrichomthongC PhokaewC WilanthoA The Thai reference exome (T-REx) variant database Clin Genet. 2021 100 703 12 Search in Google Scholar

Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Sellars E, Nezhadi SH, et al. Iranome: a catalog of genomic variations in the Iranian population. Hum Mutat. 2019; 40:1968–84. FattahiZ BeheshtianM MohseniM PoustchiH SellarsE NezhadiSH Iranome: a catalog of genomic variations in the Iranian population Hum Mutat. 2019 40 1968 84 Search in Google Scholar

Lee JM, Thong MK. Genetic counseling services and development of training programs in Malaysia. J Genet Couns. 2013; 22:911–6. LeeJM ThongMK Genetic counseling services and development of training programs in Malaysia J Genet Couns. 2013 22 911 6 Search in Google Scholar

Halim-Fikri H, Etemad A, Abdul Latif AZ, Merican AF, Baig AA, Annuar AA, et al. The first Malay database toward the ethnic-specific target molecular variation. BMC Res Notes. 2015; 8:176. Halim-FikriH EtemadA Abdul LatifAZ MericanAF BaigAA AnnuarAA The first Malay database toward the ethnic-specific target molecular variation BMC Res Notes. 2015 8 176 Search in Google Scholar

Plazzer JP, Macrae F. DNA variant databases: current state and future directions. Methods Mol Biol. 2014; 1168:263–73. PlazzerJP MacraeF DNA variant databases: current state and future directions Methods Mol Biol. 2014 1168 263 73 Search in Google Scholar

Teo YY, Sim X, Ong RT, Tan AK, Chen J, Tantoso E, et al. Singapore genome variation project: a haplotype map of three Southeast Asian populations. Genome Res. 2009; 19:2154–62. TeoYY SimX OngRT TanAK ChenJ TantosoE Singapore genome variation project: a haplotype map of three Southeast Asian populations Genome Res. 2009 19 2154 62 Search in Google Scholar

Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WK, et al. The Singapore national precision medicine strategy. Nat Genet. 2023; 55:178–86. WongE BertinN HebrardM Tirado-MagallanesR BellisC LimWK The Singapore national precision medicine strategy Nat Genet. 2023 55 178 86 Search in Google Scholar

Indonesia MoHotRo. Pedoman Nasional Pelayanan Kedokteran Tata laksana Thalasemia. Indonesia: MHRI; 2018. Indonesia MoHotRo Pedoman Nasional Pelayanan Kedokteran Tata laksana Thalasemia Indonesia MHRI 2018 Search in Google Scholar

Rujito L, Basalamah M, Mulatsih S, Sofro AS. Molecular scanning of beta-thalassemia in the southern region of Central Java, Indonesia; a step towards a local prevention program. Hemoglobin. 2015; 39:330–3. RujitoL BasalamahM MulatsihS SofroAS Molecular scanning of beta-thalassemia in the southern region of Central Java, Indonesia; a step towards a local prevention program Hemoglobin. 2015 39 330 3 Search in Google Scholar

Rujito L. Talasemia: genetik dasar dan pengelolaan terkini. Indonesia Universitas Jenderal Soedirman; 2019. RujitoL Talasemia: genetik dasar dan pengelolaan terkini Indonesia Universitas Jenderal Soedirman 2019 Search in Google Scholar

Joseph L, Cankovic M, Caughron S, Chandra P, Emmadi R, Hagenkord J, et al. The spectrum of clinical utilities in molecular pathology testing procedures for inherited conditions and cancer: a report of the association for molecular pathology. J Mol Diagn. 2016; 18:605–19. JosephL CankovicM CaughronS ChandraP EmmadiR HagenkordJ The spectrum of clinical utilities in molecular pathology testing procedures for inherited conditions and cancer: a report of the association for molecular pathology J Mol Diagn. 2016 18 605 19 Search in Google Scholar

Schrijver I, Farkas DH, Gibson JS, Lyon E, Committee AMPE. The evolving role of the laboratory professional in the age of genome sequencing: a vision of the association for molecular pathology. J Mol Diagn. 2015; 17:335–8. SchrijverI FarkasDH GibsonJS LyonE CommitteeAMPE The evolving role of the laboratory professional in the age of genome sequencing: a vision of the association for molecular pathology J Mol Diagn. 2015 17 335 8 Search in Google Scholar

Harrison SM, Biesecker LG, Rehm HL. Overview of specifications to the ACMG/AMP variant interpretation guidelines. Curr Protoc Hum Genet. 2019; 103:e93. doi: 10.1002/cphg.93 HarrisonSM BieseckerLG RehmHL Overview of specifications to the ACMG/AMP variant interpretation guidelines Curr Protoc Hum Genet. 2019 103 e93 10.1002/cphg.93 Open DOISearch in Google Scholar

Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015; 372:793–5. CollinsFS VarmusH A new initiative on precision medicine N Engl J Med. 2015 372 793 5 Search in Google Scholar

Lin JZ, Long JY, Wang AQ, Zheng Y, Zhao HT. Precision medicine: in need of guidance and surveillance. World J Gastroenterol. 2017; 23:5045–50. LinJZ LongJY WangAQ ZhengY ZhaoHT Precision medicine: in need of guidance and surveillance World J Gastroenterol. 2017 23 5045 50 Search in Google Scholar

Gavan SP, Thompson AJ, Payne K. The economic case for precision medicine. Expert Rev Precis Med Drug Dev. 2018; 3:1–9. GavanSP ThompsonAJ PayneK The economic case for precision medicine Expert Rev Precis Med Drug Dev. 2018 3 1 9 Search in Google Scholar

Alzu’bi AA, Zhou L, Watzlaf VJM. Genetic variations and precision medicine. Perspect Health Inf Manag. 2019; 16(Spring):1a. Alzu’biAA ZhouL WatzlafVJM Genetic variations and precision medicine Perspect Health Inf Manag. 2019 16 Spring 1a Search in Google Scholar

Wynn RM, Adams KT, Kowalski RL, Shivega WG, Ratwani RM, Miller KE. The patient in precision medicine: a systematic review examining evaluations of patient-facing materials. J Healthc Eng. 2018; 2018:9541621. doi: 10.1155/2018/9541621 WynnRM AdamsKT KowalskiRL ShivegaWG RatwaniRM MillerKE The patient in precision medicine: a systematic review examining evaluations of patient-facing materials J Healthc Eng. 2018 2018 9541621 10.1155/2018/9541621 Open DOISearch in Google Scholar

Boyapati RK, Kalla R, Satsangi J, Ho GT. Biomarkers in search of precision medicine in IBD. Am J Gastroenterol. 2016; 111:1682–90. BoyapatiRK KallaR SatsangiJ HoGT Biomarkers in search of precision medicine in IBD Am J Gastroenterol. 2016 111 1682 90 Search in Google Scholar

Hoffman JM, Dunnenberger HM, Kevin Hicks J, Caudle KE, Whirl Carrillo M, Freimuth RR, et al. Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC). J Am Med Inform Assoc. 2016; 23:796–801. HoffmanJM DunnenbergerHM Kevin HicksJ CaudleKE Whirl CarrilloM FreimuthRR Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC) J Am Med Inform Assoc. 2016 23 796 801 Search in Google Scholar

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM ®), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2015; 43(Database issue):D789–98. AmbergerJS BocchiniCA SchiettecatteF ScottAF HamoshA OMIM.org: Online Mendelian Inheritance in Man (OMIM ®), an online catalog of human genes and genetic disorders Nucleic Acids Res. 2015 43 Database issue D789 98 Search in Google Scholar

Najafzadeh M, Davis JC, Joshi P, Marra C. Barriers for integrating personalized medicine into clinical practice: a qualitative analysis. Am J Med Genet A. 2013; 161A:758–63. NajafzadehM DavisJC JoshiP MarraC Barriers for integrating personalized medicine into clinical practice: a qualitative analysis Am J Med Genet A. 2013 161A 758 63 Search in Google Scholar

Gubatan J, Levitte S, Patel A, Balabanis T, Wei MT, Sinha SR. Artificial intelligence applications in inflammatory bowel disease: emerging technologies and future directions. World J Gastroenterol. 2021; 27:1920–35. GubatanJ LevitteS PatelA BalabanisT WeiMT SinhaSR Artificial intelligence applications in inflammatory bowel disease: emerging technologies and future directions World J Gastroenterol. 2021 27 1920 35 Search in Google Scholar

Jiang X, Coffee M, Bari A, Wang J, Jiang X, Huang J, et al. Towards an artificial intelligence framework for data-driven prediction of coronavirus clinical severity. Comput Mater Contin. 2020; 63:537–51. JiangX CoffeeM BariA WangJ JiangX HuangJ Towards an artificial intelligence framework for data-driven prediction of coronavirus clinical severity Comput Mater Contin. 2020 63 537 51 Search in Google Scholar

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, et al. Clingen variant curation expert panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018; 39:1614–22. Rivera-MuñozEA MilkoLV HarrisonSM AzzaritiDR KurtzCL LeeK Clingen variant curation expert panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation Hum Mutat. 2018 39 1614 22 Search in Google Scholar

Easteal S, Arkell RM, Balboa RF, Bellingham SA, Brown AD, Calma T, et al. Equitable expanded carrier screening needs indigenous clinical and population genomic data. Am J Hum Genet. 2020; 107:175–82. EastealS ArkellRM BalboaRF BellinghamSA BrownAD CalmaT Equitable expanded carrier screening needs indigenous clinical and population genomic data Am J Hum Genet. 2020 107 175 82 Search in Google Scholar

Kessler MD, Yerges-Armstrong L, Taub MA, Shetty AC, Maloney K, Jeng LJB, et al. Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. Nat Commun. 2016; 7:12521. doi: 10.1038/ncomms12521 KesslerMD Yerges-ArmstrongL TaubMA ShettyAC MaloneyK JengLJB Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry Nat Commun. 2016 7 12521 10.1038/ncomms12521 Open DOISearch in Google Scholar

eISSN:
1875-855X
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
6 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Gesundheitsfachberufe, Vorklinische Medizin, Grundlagenmedizin, andere, Klinische Medizin