Matthew R Nelson, Daniel Wegmann, Margaret G Ehm, Darren Kessner, Pamela St Jean, Claudio Verzilli, Judong Shen, Zhengzheng Tang, Silviu-Alin Bacanu, Dana Fraser, Liling Warren, Jennifer Aponte, Matthew Zawistowski, Xiao Liu, Hao Zhang, Yong Zhang, Jun Li, Yun Li, Li Li, Peter Woollard, Simon Topp, Matthew D Hall, Keith Nangle, Jun Wang, Gonçalo Abecasis, Lon R Cardon, Sebastian Zöllner, John C Whittaker, Stephanie L Chissoe, John Novembre, Vincent Mooser. Science 2012
Times Cited: 468
Times Cited: 468
Times Cited
Times Co-cited
Similarity
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
35
A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
27
Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
25
Genetic variation in the human cytochrome P450 supergene family.
Kohei Fujikura, Magnus Ingelman-Sundberg, Volker M Lauschke. Pharmacogenet Genomics 2015
Kohei Fujikura, Magnus Ingelman-Sundberg, Volker M Lauschke. Pharmacogenet Genomics 2015
20
A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
20
Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response.
Mikael Kozyra, Magnus Ingelman-Sundberg, Volker M Lauschke. Genet Med 2017
Mikael Kozyra, Magnus Ingelman-Sundberg, Volker M Lauschke. Genet Med 2017
20
A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
19
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.
W S Bush, D R Crosslin, A Owusu-Obeng, J Wallace, B Almoguera, M A Basford, S J Bielinski, D S Carrell, J J Connolly, D Crawford,[...]. Clin Pharmacol Ther 2016
W S Bush, D R Crosslin, A Owusu-Obeng, J Wallace, B Almoguera, M A Basford, S J Bielinski, D S Carrell, J J Connolly, D Crawford,[...]. Clin Pharmacol Ther 2016
15
An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
14
Recent explosive human population growth has resulted in an excess of rare genetic variants.
Alon Keinan, Andrew G Clark. Science 2012
Alon Keinan, Andrew G Clark. Science 2012
14
Integrating rare genetic variants into pharmacogenetic drug response predictions.
Magnus Ingelman-Sundberg, Souren Mkrtchian, Yitian Zhou, Volker M Lauschke. Hum Genomics 2018
Magnus Ingelman-Sundberg, Souren Mkrtchian, Yitian Zhou, Volker M Lauschke. Hum Genomics 2018
14
Rare-variant association testing for sequencing data with the sequence kernel association test.
Michael C Wu, Seunggeun Lee, Tianxi Cai, Yun Li, Michael Boehnke, Xihong Lin. Am J Hum Genet 2011
Michael C Wu, Seunggeun Lee, Tianxi Cai, Yun Li, Michael Boehnke, Xihong Lin. Am J Hum Genet 2011
13
A groupwise association test for rare mutations using a weighted sum statistic.
Bo Eskerod Madsen, Sharon R Browning. PLoS Genet 2009
Bo Eskerod Madsen, Sharon R Browning. PLoS Genet 2009
12
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
11
A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
11
Finding the missing heritability of complex diseases.
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
11
Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.
Y Zhou, M Ingelman-Sundberg, V M Lauschke. Clin Pharmacol Ther 2017
Y Zhou, M Ingelman-Sundberg, V M Lauschke. Clin Pharmacol Ther 2017
11
Pharmacogenomic Biomarkers for Improved Drug Therapy-Recent Progress and Future Developments.
Volker M Lauschke, Lili Milani, Magnus Ingelman-Sundberg. AAPS J 2017
Volker M Lauschke, Lili Milani, Magnus Ingelman-Sundberg. AAPS J 2017
14
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
Adam S Gordon, Holly K Tabor, Andrew D Johnson, Beverly M Snively, Themistocles L Assimes, Paul L Auer, John P A Ioannidis, Ulrike Peters, Jennifer G Robinson, Lara E Sucheston,[...]. Hum Mol Genet 2014
Adam S Gordon, Holly K Tabor, Andrew D Johnson, Beverly M Snively, Themistocles L Assimes, Paul L Auer, John P A Ioannidis, Ulrike Peters, Jennifer G Robinson, Lara E Sucheston,[...]. Hum Mol Genet 2014
17
The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
11
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Yitian Zhou, Souren Mkrtchian, Masaki Kumondai, Masahiro Hiratsuka, Volker M Lauschke. Pharmacogenomics J 2019
Yitian Zhou, Souren Mkrtchian, Masaki Kumondai, Masahiro Hiratsuka, Volker M Lauschke. Pharmacogenomics J 2019
16
The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
10
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
10
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
10
The global spectrum of protein-coding pharmacogenomic diversity.
G E B Wright, B Carleton, M R Hayden, C J D Ross. Pharmacogenomics J 2018
G E B Wright, B Carleton, M R Hayden, C J D Ross. Pharmacogenomics J 2018
19
Demographic history and rare allele sharing among human populations.
Simon Gravel, Brenna M Henn, Ryan N Gutenkunst, Amit R Indap, Gabor T Marth, Andrew G Clark, Fuli Yu, Richard A Gibbs, Carlos D Bustamante. Proc Natl Acad Sci U S A 2011
Simon Gravel, Brenna M Henn, Ryan N Gutenkunst, Amit R Indap, Gabor T Marth, Andrew G Clark, Fuli Yu, Richard A Gibbs, Carlos D Bustamante. Proc Natl Acad Sci U S A 2011
9
Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
9
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.
Bingshan Li, Suzanne M Leal. Am J Hum Genet 2008
Bingshan Li, Suzanne M Leal. Am J Hum Genet 2008
9
Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data.
Yitian Zhou, Kohei Fujikura, Souren Mkrtchian, Volker M Lauschke. Front Pharmacol 2018
Yitian Zhou, Kohei Fujikura, Souren Mkrtchian, Volker M Lauschke. Front Pharmacol 2018
21
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data.
Ryan N Gutenkunst, Ryan D Hernandez, Scott H Williamson, Carlos D Bustamante. PLoS Genet 2009
Ryan N Gutenkunst, Ryan D Hernandez, Scott H Williamson, Carlos D Bustamante. PLoS Genet 2009
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
8
Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
8
Pooled association tests for rare variants in exon-resequencing studies.
Alkes L Price, Gregory V Kryukov, Paul I W de Bakker, Shaun M Purcell, Jeff Staples, Lee-Jen Wei, Shamil R Sunyaev. Am J Hum Genet 2010
Alkes L Price, Gregory V Kryukov, Paul I W de Bakker, Shaun M Purcell, Jeff Staples, Lee-Jen Wei, Shamil R Sunyaev. Am J Hum Genet 2010
8
Testing for an unusual distribution of rare variants.
Benjamin M Neale, Manuel A Rivas, Benjamin F Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M Purcell, Kathryn Roeder, Mark J Daly. PLoS Genet 2011
Benjamin M Neale, Manuel A Rivas, Benjamin F Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M Purcell, Kathryn Roeder, Mark J Daly. PLoS Genet 2011
8
Heritability of metoprolol and torsemide pharmacokinetics.
J Matthaei, J Brockmöller, M V Tzvetkov, D Sehrt, C Sachse-Seeboth, J B Hjelmborg, S Möller, U Halekoh, U Hofmann, M Schwab,[...]. Clin Pharmacol Ther 2015
J Matthaei, J Brockmöller, M V Tzvetkov, D Sehrt, C Sachse-Seeboth, J B Hjelmborg, S Möller, U Halekoh, U Hofmann, M Schwab,[...]. Clin Pharmacol Ther 2015
19
Requirements for comprehensive pharmacogenetic genotyping platforms.
Volker M Lauschke, Magnus Ingelman-Sundberg. Pharmacogenomics 2016
Volker M Lauschke, Magnus Ingelman-Sundberg. Pharmacogenomics 2016
24
Rare-variant association analysis: study designs and statistical tests.
Seunggeung Lee, Gonçalo R Abecasis, Michael Boehnke, Xihong Lin. Am J Hum Genet 2014
Seunggeung Lee, Gonçalo R Abecasis, Michael Boehnke, Xihong Lin. Am J Hum Genet 2014
8
Genetic effects on gene expression across human tissues.
Alexis Battle, Christopher D Brown, Barbara E Engelhardt, Stephen B Montgomery. Nature 2017
Alexis Battle, Christopher D Brown, Barbara E Engelhardt, Stephen B Montgomery. Nature 2017
8
Genetic variability and population diversity of the human SLCO (OATP) transporter family.
Boyao Zhang, Volker M Lauschke. Pharmacol Res 2019
Boyao Zhang, Volker M Lauschke. Pharmacol Res 2019
32
Genetic variation in human drug-related genes.
Charlotta Pauline Irmgard Schärfe, Roman Tremmel, Matthias Schwab, Oliver Kohlbacher, Debora Susan Marks. Genome Med 2017
Charlotta Pauline Irmgard Schärfe, Roman Tremmel, Matthias Schwab, Oliver Kohlbacher, Debora Susan Marks. Genome Med 2017
12
CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
8
The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
8
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson,[...]. NPJ Genom Med 2016
Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson,[...]. NPJ Genom Med 2016
10
Deep resequencing reveals excess rare recent variants consistent with explosive population growth.
Alex Coventry, Lara M Bull-Otterson, Xiaoming Liu, Andrew G Clark, Taylor J Maxwell, Jacy Crosby, James E Hixson, Thomas J Rea, Donna M Muzny, Lora R Lewis,[...]. Nat Commun 2010
Alex Coventry, Lara M Bull-Otterson, Xiaoming Liu, Andrew G Clark, Taylor J Maxwell, Jacy Crosby, James E Hixson, Thomas J Rea, Donna M Muzny, Lora R Lewis,[...]. Nat Commun 2010
7
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).
Stephan Morgenthaler, William G Thilly. Mutat Res 2007
Stephan Morgenthaler, William G Thilly. Mutat Res 2007
7
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.
Adam S Gordon, Robert S Fulton, Xiang Qin, Elaine R Mardis, Deborah A Nickerson, Steve Scherer. Pharmacogenet Genomics 2016
Adam S Gordon, Robert S Fulton, Xiang Qin, Elaine R Mardis, Deborah A Nickerson, Steve Scherer. Pharmacogenet Genomics 2016
8
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
7
Fast model-based estimation of ancestry in unrelated individuals.
David H Alexander, John Novembre, Kenneth Lange. Genome Res 2009
David H Alexander, John Novembre, Kenneth Lange. Genome Res 2009
7
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
L V Kalman, Jag Agúndez, M Lindqvist Appell, J L Black, G C Bell, S Boukouvala, C Bruckner, E Bruford, K Caudle, S A Coulthard,[...]. Clin Pharmacol Ther 2016
L V Kalman, Jag Agúndez, M Lindqvist Appell, J L Black, G C Bell, S Boukouvala, C Bruckner, E Bruford, K Caudle, S A Coulthard,[...]. Clin Pharmacol Ther 2016
7
SLCO1B1 variants and statin-induced myopathy--a genomewide study.
E Link, S Parish, J Armitage, L Bowman, S Heath, F Matsuda, I Gut, M Lathrop, R Collins. N Engl J Med 2008
E Link, S Parish, J Armitage, L Bowman, S Heath, F Matsuda, I Gut, M Lathrop, R Collins. N Engl J Med 2008
7
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.