A general framework for estimating the relative pathogenicity of human genetic variants M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure Nature genetics 46 (3), 310-315, 2014 | 6515 | 2014 |
A draft sequence of the Neandertal genome RE Green, J Krause, AW Briggs, T Maricic, U Stenzel, M Kircher, ... science 328 (5979), 710-722, 2010 | 5153 | 2010 |
CADD: predicting the deleteriousness of variants throughout the human genome P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher Nucleic acids research 47 (D1), D886-D894, 2019 | 3185 | 2019 |
The complete genome sequence of a Neanderthal from the Altai Mountains K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ... Nature 505 (7481), 43-49, 2014 | 2475 | 2014 |
Illumina sequencing library preparation for highly multiplexed target capture and sequencing M Meyer, M Kircher Cold Spring Harbor Protocols 2010 (6), pdb. prot5448, 2010 | 2463 | 2010 |
Genetic history of an archaic hominin group from Denisova Cave in Siberia D Reich, RE Green, M Kircher, J Krause, N Patterson, EY Durand, B Viola, ... Nature 468 (7327), 1053-1060, 2010 | 2343 | 2010 |
A high-coverage genome sequence from an archaic Denisovan individual M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ... Science 338 (6104), 222-226, 2012 | 2239 | 2012 |
Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin MW Snyder, M Kircher, AJ Hill, RM Daza, J Shendure Cell 164 (1), 57-68, 2016 | 1411 | 2016 |
The evolution of gene expression levels in mammalian organs D Brawand, M Soumillon, A Necsulea, P Julien, G Csárdi, P Harrigan, ... Nature 478 (7369), 343-348, 2011 | 1325 | 2011 |
Deep proteome and transcriptome mapping of a human cancer cell line N Nagaraj, JR Wisniewski, T Geiger, J Cox, M Kircher, J Kelso, S Pääbo, ... Molecular systems biology 7 (1), 548, 2011 | 1202 | 2011 |
Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform M Kircher, S Sawyer, M Meyer Nucleic acids research 40 (1), e3-e3, 2012 | 1192 | 2012 |
High‐throughput DNA sequencing–concepts and limitations M Kircher, J Kelso Bioessays 32 (6), 524-536, 2010 | 974 | 2010 |
Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania D Reich, N Patterson, M Kircher, F Delfin, MR Nandineni, I Pugach, ... The American Journal of Human Genetics 89 (4), 516-528, 2011 | 788 | 2011 |
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 773 | 2015 |
Ancient gene flow from early modern humans into Eastern Neanderthals M Kuhlwilm, I Gronau, MJ Hubisz, C De Filippo, J Prado-Martinez, ... Nature 530 (7591), 429-433, 2016 | 569 | 2016 |
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores P Rentzsch, M Schubach, J Shendure, M Kircher Genome medicine 13, 1-12, 2021 | 524 | 2021 |
Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX M Schubert, L Ermini, CD Sarkissian, H Jónsson, A Ginolhac, R Schaefer, ... Nature protocols 9 (5), 1056-1082, 2014 | 517 | 2014 |
Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA AW Briggs, U Stenzel, M Meyer, J Krause, M Kircher, S Pääbo Nucleic acids research 38 (6), e87-e87, 2010 | 490 | 2010 |
Improved base calling for the Illumina Genome Analyzer using machine learning strategies M Kircher, U Stenzel, J Kelso Genome biology 10, 1-9, 2009 | 451 | 2009 |
Multiplex assessment of protein variant abundance by massively parallel sequencing KA Matreyek, LM Starita, JJ Stephany, B Martin, MA Chiasson, VE Gray, ... Nature genetics 50 (6), 874-882, 2018 | 418 | 2018 |