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Accuracy and efficiency of germline variant calling pipelines for human genome data
Accuracy and efficiency of germline variant calling pipelines for human genome data
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Accuracy and efficiency of germline variant calling pipelines for human genome data

Zhao, Sen ; Agafonov, Oleg ; Azab, Abdulrahman ; Stokowy, Tomasz ; Hovig, Eivind

Scientific reports, 2020-11, Vol.10 (1), p.20222-20222, Article 20222 [Periódico revisado por pares]

England: Nature Publishing Group UK

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2
Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing
Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing
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Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing

Mak, Sarah Siu Tze ; Gopalakrishnan, Shyam ; Carøe, Christian ; Geng, Chunyu ; Liu, Shanlin ; Sinding, Mikkel-Holger S ; Kuderna, Lukas F K ; Zhang, Wenwei ; Fu, Shujin ; Vieira, Filipe G ; Germonpré, Mietje ; Bocherens, Hervé ; Fedorov, Sergey ; Petersen, Bent ; Sicheritz-Pontén, Thomas ; Marques-Bonet, Tomas ; Zhang, Guojie ; Jiang, Hui ; Gilbert, M Thomas P

Gigascience, 2017-08, Vol.6 (8), p.1-13 [Periódico revisado por pares]

United States: Oxford University Press

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3
Progress and challenges in mass spectrometry-based analysis of antibody repertoires
Progress and challenges in mass spectrometry-based analysis of antibody repertoires
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Progress and challenges in mass spectrometry-based analysis of antibody repertoires

Snapkov, Igor ; Chernigovskaya, Maria ; Sinitcyn, Pavel ; Lê Quý, Khang ; Nyman, Tuula A. ; Greiff, Victor

Trends in biotechnology (Regular ed.), 2022-04, Vol.40 (4), p.463-481 [Periódico revisado por pares]

England: Elsevier Ltd

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4
Computational Strategies for Dissecting the High-Dimensional Complexity of Adaptive Immune Repertoires
Computational Strategies for Dissecting the High-Dimensional Complexity of Adaptive Immune Repertoires
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Computational Strategies for Dissecting the High-Dimensional Complexity of Adaptive Immune Repertoires

Miho, Enkelejda ; Yermanos, Alexander ; Weber, Cédric R ; Berger, Christoph T ; Reddy, Sai T ; Greiff, Victor

Frontiers in immunology, 2018-02, Vol.9, p.224-224 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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5
ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration
ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration
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ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration

Wang, Jie ; Zibetti, Cristina ; Shang, Peng ; Sripathi, Srinivasa R ; Zhang, Pingwu ; Cano, Marisol ; Hoang, Thanh ; Xia, Shuli ; Ji, Hongkai ; Merbs, Shannath L ; Zack, Donald J ; Handa, James T ; Sinha, Debasish ; Blackshaw, Seth ; Qian, Jiang

Nature communications, 2018-04, Vol.9 (1), p.1364-13, Article 1364 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Tønne, Elin ; Due-Tønnessen, Bernt Johan ; Mero, Inger-Lise ; Wiig, Ulrikke Straume ; Kulseth, Mari Ann ; Vigeland, Magnus Dehli ; Sheng, Ying ; von der Lippe, Charlotte ; Tveten, Kristian ; Meling, Torstein Ragnar ; Helseth, Eirik ; Heimdal, Ketil Riddervold

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.920-929 [Periódico revisado por pares]

England: Nature Publishing Group

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7
A map of direct TF-DNA interactions in the human genome
A map of direct TF-DNA interactions in the human genome
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A map of direct TF-DNA interactions in the human genome

Gheorghe, Marius ; Sandve, Geir Kjetil ; Khan, Aziz ; Chèneby, Jeanne ; Ballester, Benoit ; Mathelier, Anthony

Nucleic acids research, 2019-02, Vol.47 (4), p.e21-e21 [Periódico revisado por pares]

England: Oxford University Press

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8
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Strand, Janne ; Gul, Kiran Aftab ; Erichsen, Hans Christian ; Lundman, Emma ; Berge, Mona C ; Trømborg, Anette K ; Sørgjerd, Linda K ; Ytre-Arne, Mari ; Hogner, Silje ; Halsne, Ruth ; Gaup, Hege Junita ; Osnes, Liv T ; Kro, Grete A B ; Sorte, Hanne S ; Mørkrid, Lars ; Rowe, Alexander D ; Tangeraas, Trine ; Jørgensen, Jens V ; Alme, Charlotte ; Bjørndalen, Trude E H ; Rønnestad, Arild E ; Lang, Astri M ; Rootwelt, Terje ; Buechner, Jochen ; Øverland, Torstein ; Abrahamsen, Tore G ; Pettersen, Rolf D ; Stray-Pedersen, Asbjørg

Frontiers in immunology, 2020-07, Vol.11, p.1417-1417 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Haptophyte Diversity and Vertical Distribution Explored by 18S and 28S Ribosomal RNA Gene Metabarcoding and Scanning Electron Microscopy
Haptophyte Diversity and Vertical Distribution Explored by 18S and 28S Ribosomal RNA Gene Metabarcoding and Scanning Electron Microscopy
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Haptophyte Diversity and Vertical Distribution Explored by 18S and 28S Ribosomal RNA Gene Metabarcoding and Scanning Electron Microscopy

Gran‐Stadniczeñko, Sandra ; Šupraha, Luka ; Egge, Elianne D. ; Edvardsen, Bente

The Journal of eukaryotic microbiology, 2017-07, Vol.64 (4), p.514-532 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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10
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Iqbal, Zafar ; Rydning, Siri L ; Wedding, Iselin M ; Koht, Jeanette ; Pihlstrøm, Lasse ; Rengmark, Aina H ; Henriksen, Sandra P ; Tallaksen, Chantal M E ; Toft, Mathias Brusgaard, Klaus

PloS one, 2017-03, Vol.12 (3), p.e0174667-e0174667 [Periódico revisado por pares]

United States: Public Library of Science

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