Ngā hua rapu - Martin Kircher

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  1. 1
    A framework to score the effects of structural variants in health and disease

    A framework to score the effects of structural variants in health and disease mā Philip Kleinert, Martin Kircher

    I whakaputaina 2022
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    Artigo
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  2. 2
    Addressing challenges in the production and analysis of illumina sequencing data

    Addressing challenges in the production and analysis of illumina sequencing data mā Martin Kircher, Patricia Heyn, Janet Kelso

    I whakaputaina 2011
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    Artigo
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  3. 3
    Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

    Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform mā Martin Kircher, Susanna Sawyer, Matthias Meyer

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    freeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers

    freeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers mā Gabriel Renaud, Martin Kircher, Udo Stenzel, Janet Kelso

    I whakaputaina 2013
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    Artigo
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  5. 5
    CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

    CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores mā Philipp Rentzsch, Max Schubach, Jay Shendure, Martin Kircher

    I whakaputaina 2021
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    Artigo
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  6. 6
    CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

    CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions mā Max Schubach, Thorben Maaß, Lusiné Nazaretyan, Sebastian Röner, Martin Kircher

    I whakaputaina 2024
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    Artigo
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  7. 7
    CADD: predicting the deleteriousness of variants throughout the human genome

    CADD: predicting the deleteriousness of variants throughout the human genome mā Philipp Rentzsch, Daniela Witten, Gregory M. Cooper, Jay Shendure, Martin Kircher

    I whakaputaina 2018
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    Artigo
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  8. 8
    Whole exome sequencing identifies de novo heterozygous <i>CAV1</i> mutations associated with a novel neonatal onset lipodystrophy syndrome

    Whole exome sequencing identifies de novo heterozygous <i>CAV1</i> mutations associated with a novel neonatal onset lipodystrophy syndrome mā Abhimanyu Garg, Martin Kircher, Miguel Del Campo, Roberto Amato, Anil K. Agarwal

    I whakaputaina 2015
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    Artigo
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  9. 9
    Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA

    Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA mā Adrian W. Briggs, Udo Stenzel, Matthias Meyer, Johannes Krause, Martin Kircher, Svante Pääbo

    I whakaputaina 2009
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    Artigo
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  10. 10
    Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

    Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin mā Matthew W. Snyder, Martin Kircher, Andrew J. Hill, Riza M. Daza, Jay Shendure

    I whakaputaina 2016
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    Artigo
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  11. 11
    Predicting the pathogenicity of missense variants using features derived from AlphaFold2

    Predicting the pathogenicity of missense variants using features derived from AlphaFold2 mā Axel Schmidt, Sebastian Röner, Karola Mai, Hannah Klinkhammer, Martin Kircher, Kerstin U. Ludwig

    I whakaputaina 2023
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    Artigo
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  12. 12
    Using individual barcodes to increase quantification power of massively parallel reporter assays

    Using individual barcodes to increase quantification power of massively parallel reporter assays mā Pia Keukeleire, Jonathan D. Rosen, Angelina Göbel-Knapp, Kilian Salomon, Max Schubach, Martin Kircher

    I whakaputaina 2025
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    Artigo
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  13. 13
    The Earliest Transcribed Zygotic Genes Are Short, Newly Evolved, and Different across Species

    The Earliest Transcribed Zygotic Genes Are Short, Newly Evolved, and Different across Species mā Patricia Heyn, Martin Kircher, Andreas Dahl, Janet Kelso, Pavel Tomančák, Alex T. Kalinka, Karla M. Neugebauer

    I whakaputaina 2014
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    Artigo
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  14. 14
    A general framework for estimating the relative pathogenicity of human genetic variants

    A general framework for estimating the relative pathogenicity of human genetic variants mā Martin Kircher, Daniela Witten, Preti Jain, Brian J. O’Roak, Gregory M. Cooper, Jay Shendure

    I whakaputaina 2014
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    Artigo
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  15. 15
    A Complete mtDNA Genome of an Early Modern Human from Kostenki, Russia

    A Complete mtDNA Genome of an Early Modern Human from Kostenki, Russia mā Johannes Krause, Adrian W. Briggs, Martin Kircher, Tomislav Maričić, Nicolas Zwyns, А. П. Деревянко, Svante Pääbo

    I whakaputaina 2010
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    Artigo
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  16. 16
    A systematic evaluation of the design and context dependencies of massively parallel reporter assays

    A systematic evaluation of the design and context dependencies of massively parallel reporter assays mā Jason C. Klein, Vikram Agarwal, Fumitaka Inoue, Aidan Keith, Beth Martin, Martin Kircher, Nadav Ahituv, Jay Shendure

    I whakaputaina 2020
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    Artigo
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  17. 17
    Evaluating intra- and inter-individual variation in the human placental transcriptome

    Evaluating intra- and inter-individual variation in the human placental transcriptome mā David A. Hughes, Martin Kircher, Zhisong He, Song Guo, Genevieve L. Fairbrother, Carlos S. Moreno, Philipp Khaitovich, Mark Stoneking

    I whakaputaina 2015
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    Artigo
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  18. 18
    A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

    A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity mā Fumitaka Inoue, Martin Kircher, Beth Martin, Gregory M. Cooper, Daniela Witten, Michael T. McManus, Nadav Ahituv, Jay Shendure

    I whakaputaina 2016
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    Artigo
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  19. 19
    Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

    Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution mā Martin Kircher, Chenling Xiong, Beth Martin, Max Schubach, Fumitaka Inoue, Robert J.A. Bell, J Costello, Jay Shendure, Nadav Ahituv

    I whakaputaina 2019
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    Artigo
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  20. 20
    Opsins in Onychophora (Velvet Worms) Suggest a Single Origin and Subsequent Diversification of Visual Pigments in Arthropods

    Opsins in Onychophora (Velvet Worms) Suggest a Single Origin and Subsequent Diversification of Visual Pigments in Arthropods mā Lars Hering, Miriam J. Henze, Martin Köhler, Almut Kelber, Christoph Bleidorn, Maren Leschke, Birgit Nickel, Matthias Meyer, Martin Kircher, Paul Sunnucks, Georg Mayer

    I whakaputaina 2012
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    Artigo
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