المؤلفون: Thomassen, Mads, Mesman, Romy L.S., Hansen, Thomas V.O., Menendez, Mireia, Rossing, Maria, Esteban-Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Møller, Pål, Borg, Åke, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M.G.R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B.M., Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P.G., de la Hoya, Miguel, Spurdle, Amanda B.

المصدر: Human Mutation. 43(12):1921-1944

مصطلحات موضوعية: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/171bb2ac-6d6f-4e70-b3bd-ef4481a955c7
http://dx.doi.org/10.1002/humu.24449

المؤلفون: Madhavan, Maya^Aff5, Sumodan, P. K.^Aff6, Dhanya, C. R.^Aff7, Mary, Aarcha Shanmugha^Aff8, Mustafa, Sabeena^Aff9

المساهمون: Singh, Archana, editor^Aff1, Rathi, Brijesh, editor^Aff2, Verma, Anita K., editor^Aff3, Singh, Indrakant K., editor^Aff4

المصدر: Natural Product Based Drug Discovery Against Human Parasites : Opportunities and Challenges. :203-228

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مصطلحات موضوعية: splicing, AMP classification, quantitation, dPCR, ACMG, BRCA2, functional analysis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______202::86c193c8f46523c8eb23a6010035699e

مصطلحات الفهرس: classification, textual streams, concept drifts, feature drifts, ensemble learning, time series, protein domain architectures, word embeddings, quantitative quality assessment, SCOPe secondary structure class, enzymatic commission class, human genomic variants, hearing loss, ACMG/AMP classification, bioinformatics, clinical diagnostics, Klassifizierung, Textströme, Konzeptdrift, Featuresdrift, Ensemble-Lernen, Zeitserien, Proteindomänenarchitekturen, Word Embeddings, quantitative Qualitätsbewertung, SCOPe-Sekundärstrukturklasse, Enzymkommissionsklasse, humangenomische Varianten, Hörverlust, ACMG/AMP-Klassifizierung, Bioinformatik, klinische Diagnostik, DoctoralThesis, Text

URL: https://www.repo.uni-hannover.de/handle/123456789/13624

المصدر: Thomassen , M , Mesman , R L S , Hansen , T V O , Menendez , M , Rossing , M , Esteban-Sánchez , A , Tudini , E , Törngren , T , Parsons , M T , Pedersen , I S , Teo , S H , Kruse , T A , Møller , P , Borg , Å , Jensen , U B , Christensen , L L , Singer , C F , Muhr , D , Santamarina , M , Brandao , R , Andresen , B S , Feng , B-J , Canson , D , Richardson , M E , Karam , R , Pesaran , T , LaDuca , H , Conner , B R , Abualkheir , N , Hoang , L , Calléja , F M G R , Andrews , L , James , P A , Bunyan , D , Hamblett , A , Radice , P , Goldgar , D E , Walker , L C , Engel , C , Claes , K B M , Macháčková , E , Baralle , D , Viel , A , Wappenschmidt , B , Lazaro , C , Vega , A , Vreeswijk , M P G , de la Hoya , M , Spurdle , A B & ENIGMA Consortium 2022 , ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ' , Human Mutation , vol. 43 , no. 12 , pp. 1921-1944 .

مصطلحات الفهرس: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing, article

URL: https://curis.ku.dk/portal/da/publications/clinical-splicing-and-functional-analysis-to-classify-brca2-exon-3-variants(b524ea37-c8ed-4860-9f69-c91fe616d50c).html
https://doi.org/10.1002/humu.24449
https://curis.ku.dk/ws/files/329441053/Human_Mutation_2022_Thomassen_Clinical_splicing_and_functional_analysis_to_classify_BRCA2_exon_3_variants_.pdf

المصدر: Thomassen , M , Mesman , R L S , Hansen , T V O , Menendez , M , Rossing , M , Esteban-Sánchez , A , Tudini , E , Törngren , T , Parsons , M T , Pedersen , I S , Teo , S H , Kruse , T A , Møller , P , Borg , Å , Jensen , U B , Christensen , L L , Singer , C F , Muhr , D , Santamarina , M , Brandao , R , Andresen , B S , Feng , B-J , Canson , D , Richardson , M E , Karam , R , Pesaran , T , LaDuca , H , Conner , B R , Abualkheir , N , Hoang , L , Calléja , F M G R , Andrews , L , James , P A , Bunyan , D , Hamblett , A , Radice , P , Goldgar , D E , Walker , L C , Engel , C , Claes , K B M , Macháčková , E , Baralle , D , Viel , A , Wappenschmidt , B , Lazaro , C , Vega , A , Vreeswijk , M P G , de la Hoya , M , Spurdle , A B & ENIGMA Consortium 2022 , ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ' , Human Mutation , vol. 43 , no. 12 , pp. 1921-1944 .

مصطلحات الفهرس: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing, article

URL: https://curis.ku.dk/portal/da/publications/clinical-splicing-and-functional-analysis-to-classify-brca2-exon-3-variants(b524ea37-c8ed-4860-9f69-c91fe616d50c).html
https://doi.org/10.1002/humu.24449
https://curis.ku.dk/ws/files/329441053/Human_Mutation_2022_Thomassen_Clinical_splicing_and_functional_analysis_to_classify_BRCA2_exon_3_variants_.pdf