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Biology and Biochemistry

D-Index
60
Citations
44204
World Ranking
11642
National Ranking
828

Overview

Martin Kircher is affiliated with Charité - University Medicine Berlin in Germany. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with a focus on Molecular Biology, Genetics, Cancer Research, Hematology, and Artificial Intelligence subfields.

Their scientific contributions address multiple topics, including:

  • Genomics and Rare Diseases
  • RNA and protein synthesis mechanisms
  • Genomics and Phylogenetic Studies
  • Genomics and Chromatin Dynamics
  • RNA modifications and cancer
  • Cancer Genomics and Diagnostics
  • RNA Research and Splicing

Martin Kircher has published extensively, with notable recent papers such as:

  • "CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores," 2021, Genome Medicine
  • "CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions," 2024, Nucleic Acids Research
  • "A systematic evaluation of the design and context dependencies of massively parallel reporter assays," 2020, Nature Methods
  • "lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements," 2020, Nature Protocols
  • "Aberrant phase separation and nucleolar dysfunction in rare genetic diseases," 2023, Nature

The frequent venues hosting their work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Zenodo (CERN European Organization for Nuclear Research)
  • Nature
  • Genome Medicine
  • Nature Protocols

Collaboration is a notable aspect of their scholarly output. Frequent co-authors are:

  • Max Schubach
  • Jay Shendure
  • Nadav Ahituv
  • Beth Martin
  • Lusiné Nazaretyan

Best Publications

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M Witten;Preti Jain;Brian J O'Roak;Brian J O'Roak

  • A Draft Sequence of the Neandertal Genome

    Richard E. Green;Johannes Krause;Adrian W. Briggs;Tomislav Maricic

  • CADD: predicting the deleteriousness of variants throughout the human genome.

    Philipp Rentzsch;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

  • The complete genome sequence of a Neanderthal from the Altai Mountains

    Kay Prüfer;Fernando Racimo;Nick Patterson;Flora Jay

  • Genetic history of an archaic hominin group from Denisova Cave in Siberia

    David Reich;Richard E. Green;Martin Kircher;Johannes Krause

  • Illumina Sequencing Library Preparation for Highly Multiplexed Target Capture and Sequencing

    Matthias Meyer;Martin Kircher

  • A high-coverage genome sequence from an archaic Denisovan individual

    Matthias Meyer;Martin Kircher;Marie Theres Gansauge;Heng Li

  • The evolution of gene expression levels in mammalian organs

    David Brawand;Magali Soumillon;Magali Soumillon;Anamaria Necsulea;Anamaria Necsulea;Philippe Julien;Philippe Julien

  • Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin

    M. W. Snyder;M. Kircher;A. J. Hill;R. M. Daza

  • Deep proteome and transcriptome mapping of a human cancer cell line

    Nagarjuna Nagaraj;Jacek R Wisniewski;Tamar Geiger;Juergen Cox

  • Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

    Martin Kircher;Susanna Sawyer;Matthias Meyer

  • High-throughput DNA sequencing – concepts and limitations

    Martin Kircher;Janet Kelso

  • Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania

    David Reich;Nick Patterson;Martin Kircher;Frederick Delfin

  • The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  • Ancient gene flow from early modern humans into Eastern Neanderthals

    Martin Kuhlwilm;Ilan Gronau;Melissa J. Hubisz;Cesare de Filippo

  • Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX

    Mikkel Schubert;Luca Ermini;Clio Der Sarkissian;Hákon Jónsson

  • CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

    Philipp Rentzsch;Max Schubach;Jay Shendure;Martin Kircher

  • Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA

    Adrian W. Briggs;Udo Stenzel;Matthias Meyer;Johannes Krause

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

  • Methods, Models & Techniques High-throughput DNA sequencing - concepts and limitations

    Martin Kircher;Janet Kelso

Frequent Co-Authors

Jay Shendure
Jay Shendure University of Washington
Michael J. Bamshad
Michael J. Bamshad University of Washington
Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Svante Pääbo
Svante Pääbo Max Planck Institute for Evolutionary Anthropology
Janet Kelso
Janet Kelso Max Planck Society
Matthias Meyer
Matthias Meyer Max Planck Society
Nadav Ahituv
Nadav Ahituv University of California, San Francisco
Hudson H. Freeze
Hudson H. Freeze Discovery Institute
Gregory M. Cooper
Gregory M. Cooper HudsonAlpha Institute for Biotechnology
Daniela Witten
Daniela Witten University of Washington

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