2021
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4
Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.Peer-Reviewed Original ResearchConceptsC-terminusGenome-wide transcriptome analysisRahman syndromeUnderstanding of mutationsHistone H1.4Neuronal genesTranscriptome analysisAbnormal C-terminusFunctional categoriesFunctional characterizationN-terminusNeuropeptide signalingDe novo heterozygous mutationsSupport of pathogenicitySmall insertionsFunctional consequencesNovo heterozygous mutationRat hippocampal neuronsFrameshift mutationMutationsH1.4Rare genetic disorderSevere intellectual disabilityGenesClinical features
2020
Mapping and characterization of structural variation in 17,795 human genomes
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S, Matise T, Muzny D, Zody M, Lander E, Dutcher S, Stitziel N, Hall I. Mapping and characterization of structural variation in 17,795 human genomes. Nature 2020, 583: 83-89. PMID: 32460305, PMCID: PMC7547914, DOI: 10.1038/s41586-020-2371-0.Peer-Reviewed Original ResearchConceptsStructural variantsWhole-genome sequencingHuman genomeUltra-rare structural variantsRare structural variantsSuch structural variantsSingle nucleotide variantsNoncoding elementsDosage sensitivityGenomeHuman geneticsSmall insertionsComplex rearrangementsDeletion variantsSmall variantsStructural variationsGenesSequencingAllelesForm of variationVariantsElement classesSite frequency dataDeleterious effectsGeneticsPan-cancer analysis of whole genomes
Aaltonen L, Abascal F, Abeshouse A, Aburatani H, Adams D, Agrawal N, Ahn K, Ahn S, Aikata H, Akbani R, Akdemir K, Al-Ahmadie H, Al-Sedairy T, Al-Shahrour F, Alawi M, Albert M, Aldape K, Alexandrov L, Ally A, Alsop K, Alvarez E, Amary F, Amin S, Aminou B, Ammerpohl O, Anderson M, Ang Y, Antonello D, Anur P, Aparicio S, Appelbaum E, Arai Y, Aretz A, Arihiro K, Ariizumi S, Armenia J, Arnould L, Asa S, Assenov Y, Atwal G, Aukema S, Auman J, Aure M, Awadalla P, Aymerich M, Bader G, Baez-Ortega A, Bailey M, Bailey P, Balasundaram M, Balu S, Bandopadhayay P, Banks R, Barbi S, Barbour A, Barenboim J, Barnholtz-Sloan J, Barr H, Barrera E, Bartlett J, Bartolome J, Bassi C, Bathe O, Baumhoer D, Bavi P, Baylin S, Bazant W, Beardsmore D, Beck T, Behjati S, Behren A, Niu B, Bell C, Beltran S, Benz C, Berchuck A, Bergmann A, Bergstrom E, Berman B, Berney D, Bernhart S, Beroukhim R, Berrios M, Bersani S, Bertl J, Betancourt M, Bhandari V, Bhosle S, Biankin A, Bieg M, Bigner D, Binder H, Birney E, Birrer M, Biswas N, Bjerkehagen B, Bodenheimer T, Boice L, Bonizzato G, De Bono J, Boot A, Bootwalla M, Borg A, Borkhardt A, Boroevich K, Borozan I, Borst C, Bosenberg M, Bosio M, Boultwood J, Bourque G, Boutros P, Bova G, Bowen D, Bowlby R, Bowtell D, Boyault S, Boyce R, Boyd J, Brazma A, Brennan P, Brewer D, Brinkman A, Bristow R, Broaddus R, Brock J, Brock M, Broeks A, Brooks A, Brooks D, Brors B, Brunak S, Bruxner T, Bruzos A, Buchanan A, Buchhalter I, Buchholz C, Bullman S, Burke H, Burkhardt B, Burns K, Busanovich J, Bustamante C, Butler A, Butte A, Byrne N, Børresen-Dale A, Caesar-Johnson S, Cafferkey A, Cahill D, Calabrese C, Caldas C, Calvo F, Camacho N, Campbell P, Campo E, Cantù C, Cao S, Carey T, Carlevaro-Fita J, Carlsen R, Cataldo I, Cazzola M, Cebon J, Cerfolio R, Chadwick D, Chakravarty D, Chalmers D, Chan C, Chan K, Chan-Seng-Yue M, Chandan V, Chang D, Chanock S, Chantrill L, Chateigner A, Chatterjee N, Chayama K, Chen H, Chen J, Chen K, Chen Y, Chen Z, Cherniack A, Chien J, Chiew Y, Chin S, Cho J, Cho S, Choi J, Choi W, Chomienne C, Chong Z, Choo S, Chou A, Christ A, Christie E, Chuah E, Cibulskis C, Cibulskis K, Cingarlini S, Clapham P, Claviez A, Cleary S, Cloonan N, Cmero M, Collins C, Connor A, Cooke S, Cooper C, Cope L, Corbo V, Cordes M, Cordner S, Cortés-Ciriano I, Covington K, Cowin P, Craft B, Craft D, Creighton C, Cun Y, Curley E, Cutcutache I, Czajka K, Czerniak B, Dagg R, Danilova L, Davi M, Davidson N, Davies H, Davis I, Davis-Dusenbery B, Dawson K, De La Vega F, De Paoli-Iseppi R, Defreitas T, Dei Tos A, Delaneau O, Demchok J, Demeulemeester J, Demidov G, Demircioğlu D, Dennis N, Denroche R, Dentro S, Desai N, Deshpande V, Deshwar A, Desmedt C, Deu-Pons J, Dhalla N, Dhani N, Dhingra P, Dhir R, DiBiase A, Diamanti K, Ding L, Ding S, Dinh H, Dirix L, Doddapaneni H, Donmez N, Dow M, Drapkin R, Drechsel O, Drews R, Serge S, Dudderidge T, Dueso-Barroso A, Dunford A, Dunn M, Dursi L, Duthie F, Dutton-Regester K, Eagles J, Easton D, Edmonds S, Edwards P, Edwards S, Eeles R, Ehinger A, Eils J, Eils R, El-Naggar A, Eldridge M, Ellrott K, Erkek S, Escaramis G, Espiritu S, Estivill X, Etemadmoghadam D, Eyfjord J, Faltas B, Fan D, Fan Y, Faquin W, Farcas C, Fassan M, Fatima A, Favero F, Fayzullaev N, Felau I, Fereday S, Ferguson M, Ferretti V, Feuerbach L, Field M, Fink J, Finocchiaro G, Fisher C, Fittall M, Fitzgerald A, Fitzgerald R, Flanagan A, Fleshner N, Flicek P, Foekens J, Fong K, Fonseca N, Foster C, Fox N, Fraser M, Frazer S, Frenkel-Morgenstern M, Friedman W, Frigola J, Fronick C, Fujimoto A, Fujita M, Fukayama M, Fulton L, Fulton R, Furuta M, Futreal P, Füllgrabe A, Gabriel S, Gallinger S, Gambacorti-Passerini C, Gao J, Gao S, Garraway L, Garred Ø, Garrison E, Garsed D, Gehlenborg N, Gelpi J, George J, Gerhard D, Gerhauser C, Gershenwald J, Gerstein M, Gerstung M, Getz G, Ghori M, Ghossein R, Giama N, Gibbs R, Gibson B, Gill A, Gill P, Giri D, Glodzik D, Gnanapragasam V, Goebler M, Goldman M, Gomez C, Gonzalez S, Gonzalez-Perez A, Gordenin D, Gossage J, Gotoh K, Govindan R, Grabau D, Graham J, Grant R, Green A, Green E, Greger L, Grehan N, Grimaldi S, Grimmond S, Grossman R, Grundhoff A, Gundem G, Guo Q, Gupta M, Gupta S, Gut I, Gut M, Göke J, Ha G, Haake A, Haan D, Haas S, Haase K, Haber J, Habermann N, Hach F, Haider S, Hama N, Hamdy F, Hamilton A, Hamilton M, Han L, Hanna G, Hansmann M, Haradhvala N, Harismendy O, Harliwong I, Harmanci A, Harrington E, Hasegawa T, Haussler D, Hawkins S, Hayami S, Hayashi S, Hayes D, Hayes S, Hayward N, Hazell S, He Y, Heath A, Heath S, Hedley D, Hegde A, Heiman D, Heinold M, Heins Z, Heisler L, Hellstrom-Lindberg E, Helmy M, Heo S, Hepperla A, Heredia-Genestar J, Herrmann C, Hersey P, Hess J, Hilmarsdottir H, Hinton J, Hirano S, Hiraoka N, Hoadley K, Hobolth A, Hodzic E, Hoell J, Hoffmann S, Hofmann O, Holbrook A, Holik A, Hollingsworth M, Holmes O, Holt R, Hong C, Hong E, Hong J, Hooijer G, Hornshøj H, Hosoda F, Hou Y, Hovestadt V, Howat W, Hoyle A, Hruban R, Hu J, Hu T, Hua X, Huang K, Huang M, Huang M, Huang V, Huang Y, Huber W, Hudson T, Hummel M, Hung J, Huntsman D, Hupp T, Huse J, Huska M, Hutter B, Hutter C, Hübschmann D, Iacobuzio-Donahue C, Imbusch C, Imielinski M, Imoto S, Isaacs W, Isaev K, Ishikawa S, Iskar M, Islam S, Ittmann M, Ivkovic S, Izarzugaza J, Jacquemier J, Jakrot V, Jamieson N, Jang G, Jang J, Jayaseelan J, Jayasinghe R, Jefferys S, Jegalian K, Jennings J, Jeon S, Jerman L, Ji Y, Jiao W, Johansson P, Johns A, Johns J, Johnson R, Johnson T, Jolly C, Joly Y, Jonasson J, Jones C, Jones D, Jones D, Jones N, Jones S, Jonkers J, Ju Y, Juhl H, Jung J, Juul M, Juul R, Juul S, Jäger N, Kabbe R, Kahles A, Kahraman A, Kaiser V, Kakavand H, Kalimuthu S, von Kalle C, Kang K, Karaszi K, Karlan B, Karlić R, Karsch D, Kasaian K, Kassahn K, Katai H, Kato M, Katoh H, Kawakami Y, Kay J, Kazakoff S, Kazanov M, Keays M, Kebebew E, Kefford R, Kellis M, Kench J, Kennedy C, Kerssemakers J, Khoo D, Khoo V, Khuntikeo N, Khurana E, Kilpinen H, Kim H, Kim H, Kim H, Kim H, Kim J, Kim J, Kim J, Kim Y, King T, Klapper W, Kleinheinz K, Klimczak L, Knappskog S, Kneba M, Knoppers B, Koh Y, Komorowski J, Komura D, Komura M, Kong G, Kool M, Korbel J, Korchina V, Korshunov A, Koscher M, Koster R, Kote-Jarai Z, Koures A, Kovacevic M, Kremeyer B, Kretzmer H, Kreuz M, Krishnamurthy S, Kube D, Kumar K, Kumar P, Kumar S, Kumar Y, Kundra R, Kübler K, Küppers R, Lagergren J, Lai P, Laird P, Lakhani S, Lalansingh C, Lalonde E, Lamaze F, Lambert A, Lander E, Landgraf P, Landoni L, Langerød A, Lanzós A, Larsimont D, Larsson E, Lathrop M, Lau L, Lawerenz C, Lawlor R, Lawrence M, Lazar A, Lazic A, Le X, Lee D, Lee D, Lee E, Lee H, Lee J, Lee J, Lee J, Lee M, Lee-Six H, Lehmann K, Lehrach H, Lenze D, Leonard C, Leongamornlert D, Leshchiner I, Letourneau L, Letunic I, Levine D, Lewis L, Ley T, Li C, Li C, Li H, Li J, Li L, Li S, Li S, Li X, Li X, Li X, Li Y, Liang H, Liang S, Lichter P, Lin P, Lin Z, Linehan W, Lingjærde O, Liu D, Liu E, Liu F, Liu F, Liu J, Liu X, Livingstone J, Livitz D, Livni N, Lochovsky L, Loeffler M, Long G, Lopez-Guillermo A, Lou S, Louis D, Lovat L, Lu Y, Lu Y, Lu Y, Luchini C, Lungu I, Luo X, Luxton H, Lynch A, Lype L, López C, López-Otín C, Z. E, Ma Y, MacGrogan G, MacRae S, Macintyre G, Madsen T, Maejima K, Mafficini A, Maglinte D, Maitra A, Majumder P, Malcovati L, Malikic S, Malleo G, Mann G, Mantovani-Löffler L, Marchal K, Marchegiani G, Mardis E, Margolin A, Marin M, Markowetz F, Markowski J, Marks J, Marques-Bonet T, Marra M, Marsden L, Martens J, Martin S, Martin-Subero J, Martincorena I, Martinez-Fundichely A, Maruvka Y, Mashl R, Massie C, Matthew T, Matthews L, Mayer E, Mayes S, Mayo M, Mbabaali F, McCune K, McDermott U, McGillivray P, McLellan M, McPherson J, McPherson J, McPherson T, Meier S, Meng A, Meng S, Menzies A, Merrett N, Merson S, Meyerson M, Meyerson W, Mieczkowski P, Mihaiescu G, Mijalkovic S, Mikkelsen T, Milella M, Mileshkin L, Miller C, Miller D, Miller J, Mills G, Milovanovic A, Minner S, Miotto M, Arnau G, Mirabello L, Mitchell C, Mitchell T, Miyano S, Miyoshi N, Mizuno S, Molnár-Gábor F, Moore M, Moore R, Morganella S, Morris Q, Morrison C, Mose L, Moser C, Muiños F, Mularoni L, Mungall A, Mungall K, Musgrove E, Mustonen V, Mutch D, Muyas F, Muzny D, Muñoz A, Myers J, Myklebost O, Möller P, Nagae G, Nagrial A, Nahal-Bose H, Nakagama H, Nakagawa H, Nakamura H, Nakamura T, Nakano K, Nandi T, Nangalia J, Nastic M, Navarro A, Navarro F, Neal D, Nettekoven G, Newell F, Newhouse S, Newton Y, Ng A, Ng A, Nicholson J, Nicol D, Nie Y, Nielsen G, Nielsen M, Nik-Zainal S, Noble M, Nones K, Northcott P, Notta F, O’Connor B, O’Donnell P, O’Donovan M, O’Meara S, O’Neill B, O’Neill J, Ocana D, Ochoa A, Oesper L, Ogden C, Ohdan H, Ohi K, Ohno-Machado L, Oien K, Ojesina A, Ojima H, Okusaka T, Omberg L, Ong C, Ossowski S, Ott G, Ouellette B, P’ng C, Paczkowska M, Paiella S, Pairojkul C, Pajic M, Pan-Hammarström Q, Papaemmanuil E, Papatheodorou I, Paramasivam N, Park J, Park J, Park K, Park K, Park P, Parker J, Parsons S, Pass H, Pasternack D, Pastore A, Patch A, Pauporté I, Pea A, Pearson J, Pedamallu C, Pedersen J, Pederzoli P, Peifer M, Pennell N, Perou C, Perry M, Petersen G, Peto M, Petrelli N, Petryszak R, Pfister S, Phillips M, Pich O, Pickett H, Pihl T, Pillay N, Pinder S, Pinese M, Pinho A, Pitkänen E, Pivot X, Piñeiro-Yáñez E, Planko L, Plass C, Polak P, Pons T, Popescu I, Potapova O, Prasad A, Preston S, Prinz M, Pritchard A, Prokopec S, Provenzano E, Puente X, Puig S, Puiggròs M, Pulido-Tamayo S, Pupo G, Purdie C, Quinn M, Rabionet R, Rader J, Radlwimmer B, Radovic P, Raeder B, Raine K, Ramakrishna M, Ramakrishnan K, Ramalingam S, Raphael B, Rathmell W, Rausch T, Reifenberger G, Reimand J, Reis-Filho J, Reuter V, Reyes-Salazar I, Reyna M, Reynolds S, Rheinbay E, Riazalhosseini Y, Richardson A, Richter J, Ringel M, Ringnér M, Rino Y, Rippe K, Roach J, Roberts L, Roberts N, Roberts S, Robertson A, Robertson A, Rodriguez J, Rodriguez-Martin B, Rodríguez-González F, Roehrl M, Rohde M, Rokutan H, Romieu G, Rooman I, Roques T, Rosebrock D, Rosenberg M, Rosenstiel P, Rosenwald A, Rowe E, Royo R, Rozen S, Rubanova Y, Rubin M, Rubio-Perez C, Rudneva V, Rusev B, Ruzzenente A, Rätsch G, Sabarinathan R, Sabelnykova V, Sadeghi S, Sahinalp S, Saini N, Saito-Adachi M, Saksena G, Salcedo A, Salgado R, Salichos L, Sallari R, Saller C, Salvia R, Sam M, Samra J, Sanchez-Vega F, Sander C, Sanders G, Sarin R, Sarrafi I, Sasaki-Oku A, Sauer T, Sauter G, Saw R, Scardoni M, Scarlett C, Scarpa A, Scelo G, Schadendorf D, Schein J, Schilhabel M, Schlesner M, Schlomm T, Schmidt H, Schramm S, Schreiber S, Schultz N, Schumacher S, Schwarz R, Scolyer R, Scott D, Scully R, Seethala R, Segre A, Selander I, Semple C, Senbabaoglu Y, Sengupta S, Sereni E, Serra S, Sgroi D, Shackleton M, Shah N, Shahabi S, Shang C, Shang P, Shapira O, Shelton T, Shen C, Shen H, Shepherd R, Shi R, Shi Y, Shiah Y, Shibata T, Shih J, Shimizu E, Shimizu K, Shin S, Shiraishi Y, Shmaya T, Shmulevich I, Shorser S, Short C, Shrestha R, Shringarpure S, Shriver C, Shuai S, Sidiropoulos N, Siebert R, Sieuwerts A, Sieverling L, Signoretti S, Sikora K, Simbolo M, Simon R, Simons J, Simpson J, Simpson P, Singer S, Sinnott-Armstrong N, Sipahimalani P, Skelly T, Smid M, Smith J, Smith-McCune K, Socci N, Sofia H, Soloway M, Song L, Sood A, Sothi S, Sotiriou C, Soulette C, Span P, Spellman P, Sperandio N, Spillane A, Spiro O, Spring J, Staaf J, Stadler P, Staib P, Stark S, Stebbings L, Stefánsson Ó, Stegle O, Stein L, Stenhouse A, Stewart C, Stilgenbauer S, Stobbe M, Stratton M, Stretch J, Struck A, Stuart J, Stunnenberg H, Su H, Su X, Sun R, Sungalee S, Susak H, Suzuki A, Sweep F, Szczepanowski M, Sültmann H, Yugawa T, Tam A, Tamborero D, Tan B, Tan D, Tan P, Tanaka H, Taniguchi H, Tanskanen T, Tarabichi M, Tarnuzzer R, Tarpey P, Taschuk M, Tatsuno K, Tavaré S, Taylor D, Taylor-Weiner A, Teague J, Teh B, Tembe V, Temes J, Thai K, Thayer S, Thiessen N, Thomas G, Thomas S, Thompson A, Thompson A, Thompson J, Thompson R, Thorne H, Thorne L, Thorogood A, Tiao G, Tijanic N, Timms L, Tirabosco R, Tojo M, Tommasi S, Toon C, Toprak U, Torrents D, Tortora G, Tost J, Totoki Y, Townend D, Traficante N, Treilleux I, Trotta J, Trümper L, Tsao M, Tsunoda T, Tubio J, Tucker O, Turkington R, Turner D, Tutt A, Ueno M, Ueno N, Umbricht C, Umer H, Underwood T, Urban L, Urushidate T, Ushiku T, Uusküla-Reimand L, Valencia A, Van Den Berg D, Van Laere S, Van Loo P, Van Meir E, Van den Eynden G, Van der Kwast T, Vasudev N, Vazquez M, Vedururu R, Veluvolu U, Vembu S, Verbeke L, Vermeulen P, Verrill C, Viari A, Vicente D, Vicentini C, VijayRaghavan K, Viksna J, Vilain R, Villasante I, Vincent-Salomon A, Visakorpi T, Voet D, Vyas P, Vázquez-García I, Waddell N, Waddell N, Wadelius C, Wadi L, Wagener R, Wala J, Wang J, Wang J, Wang L, Wang Q, Wang W, Wang Y, Wang Z, Waring P, Warnatz H, Warrell J, Warren A, Waszak S, Wedge D, Weichenhan D, Weinberger P, Weinstein J, Weischenfeldt J, Weisenberger D, Welch I, Wendl M, Werner J, Whalley J, Wheeler D, Whitaker H, Wigle D, Wilkerson M, Williams A, Wilmott J, Wilson G, Wilson J, Wilson R, Winterhoff B, Wintersinger J, Wiznerowicz M, Wolf S, Wong B, Wong T, Wong W, Woo Y, Wood S, Wouters B, Wright A, Wright D, Wright M, Wu C, Wu D, Wu G, Wu J, Wu K, Wu Y, Wu Z, Xi L, Xia T, Xiang Q, Xiao X, Xing R, Xiong H, Xu Q, Xu Y, Xue H, Yachida S, Yakneen S, Yamaguchi R, Yamaguchi T, Yamamoto M, Yamamoto S, Yamaue H, Yang F, Yang H, Yang J, Yang L, Yang L, Yang S, Yang T, Yang Y, Yao X, Yaspo M, Yates L, Yau C, Ye C, Ye K, Yellapantula V, Yoon C, Yoon S, Yousif F, Yu J, Yu K, Yu W, Yu Y, Yuan K, Yuan Y, Yuen D, Yung C, Zaikova O, Zamora J, Zapatka M, Zenklusen J, Zenz T, Zeps N, Zhang C, Zhang F, Zhang H, Zhang H, Zhang H, Zhang J, Zhang J, Zhang J, Zhang X, Zhang X, Zhang Y, Zhang Z, Zhao Z, Zheng L, Zheng X, Zhou W, Zhou Y, Zhu B, Zhu H, Zhu J, Zhu S, Zou L, Zou X, deFazio A, van As N, van Deurzen C, van de Vijver M, Veer L, von Mering C. Pan-cancer analysis of whole genomes. Nature 2020, 578: 82-93. PMID: 32025007, PMCID: PMC7025898, DOI: 10.1038/s41586-020-1969-6.Peer-Reviewed Original ResearchMeSH KeywordsCell ProliferationCellular SenescenceChromothripsisCloud ComputingDNA Mutational AnalysisEvolution, MolecularFemaleGenome, HumanGenomicsGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansInformation DisseminationMaleMutagenesisMutationNeoplasmsOncogenesPromoter Regions, GeneticReproducibility of ResultsRNA SplicingTelomeraseTelomereConceptsPan-Cancer Analysis of Whole GenomesInternational Cancer Genome ConsortiumPan-cancer analysisPan-Cancer Analysis of Whole Genomes ConsortiumStructural variantsNon-coding genomic elementsPoint mutationsAnalysis of Whole GenomesSomatic mutationsNon-coding mutationsRare germline variantsAbnormal telomere maintenanceConsequences of somatic mutationsPattern of somatic mutationsSignatures of mutational processesCancer driver discoveryCancer-associated genesSomatic point mutationsGenomic elementsWhole genomeLow replicative activitySmall insertionsCancer Genome ConsortiumBase substitutionsCancer genomes
2019
Inherited glomerular diseases in the gilded age of genomic advancements
Gulati A, Dahl N, Tufro A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatric Nephrology 2019, 35: 959-968. PMID: 31049720, PMCID: PMC7184048, DOI: 10.1007/s00467-019-04266-y.Peer-Reviewed Original ResearchConceptsGenomic advancementsHigh-throughput next-generation sequencing technologiesNext-generation sequencing technologiesSingle nucleotide changeSingle nucleotide variationsDisease-causing mutationsDNA variationHuman genomeNext-generation sequencingGenomic informationSequencing technologiesNucleotide variationsAccurate genetic diagnosisNucleotide changesGenetic diagnosisSmall insertionsGenomic knowledgeCytogenetic methodsBiological interpretationMutation spectrumSequencingGenomic medicineGenomeUncertain significanceGlomerular disease
2014
AN INTEGRATED FRAMEWORK FOR REPORTING CLINICALLY RELEVANT BIOMARKERS FROM PAIRED TUMOR/NORMAL GENOMIC AND TRANSCRIPTOMIC SEQUENCING DATA IN SUPPORT OF CLINICAL TRIALS IN PERSONALIZED MEDICINE
Altman R, Dunker A, Hunter L, Ritchie M, Murray T, Klein T, NASSER S, KURDOGLU A, IZATT T, ALDRICH J, RUSSELL M, CHRISTOFORIDES A, TEMBE W, KIEFER J, CORNEVEAUX J, BYRON S, FORMAN K, ZUCCARO C, KEATS J, LORUSSO P, CARPTEN J, TRENT J, CRAIG D. AN INTEGRATED FRAMEWORK FOR REPORTING CLINICALLY RELEVANT BIOMARKERS FROM PAIRED TUMOR/NORMAL GENOMIC AND TRANSCRIPTOMIC SEQUENCING DATA IN SUPPORT OF CLINICAL TRIALS IN PERSONALIZED MEDICINE. Biocomputing 2014, 56-67. PMID: 25592568, DOI: 10.1142/9789814644730_0007.Peer-Reviewed Original ResearchConceptsTranscriptomic sequencing dataHigh-throughput genomic dataRelational database systemsTerabytes of dataTumor/normal samplesSingle nucleotide changeDiversity of usersReal-time mannerIndividual genomesAnnotation databasesDatabase systemsFlexible computational frameworkChromosomal rearrangementsGenomic dataGene expressionSequencing dataData structureComputational architectureGene fusionsNucleotide changesMultiple trackersBase pairsSmall insertionsTime mannerClinical genomic testing
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply