Kiran Garimella
Kiran Garimella
Wellcome Trust Centre for Human Genetics, University of Oxford
Verified email at well.ox.ac.uk - Homepage
Title
Cited by
Cited by
Year
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
A McKenna, M Hanna, E Banks, A Sivachenko, K Cibulskis, A Kernytsky, ...
Genome research 20 (9), 1297-1303, 2010
162172010
A framework for variation discovery and genotyping using next-generation DNA sequencing data
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
Nature genetics 43 (5), 491, 2011
87092011
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
74452010
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013
38592013
Patterns and rates of exonic de novo mutations in autism spectrum disorders
BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...
Nature 485 (7397), 242-245, 2012
17052012
A polygenic burden of rare disruptive mutations in schizophrenia
SM Purcell, JL Moran, M Fromer, D Ruderfer, N Solovieff, P Roussos, ...
Nature 506 (7487), 185-190, 2014
12742014
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
5742011
Variation in genome-wide mutation rates within and between human families
DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals, ...
Nature genetics 43 (7), 712, 2011
5742011
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
K Musunuru, JP Pirruccello, R Do, GM Peloso, C Guiducci, C Sougnez, ...
New England Journal of Medicine 363 (23), 2220-2227, 2010
5722010
Exome sequencing and the genetic basis of complex traits
A Kiezun, K Garimella, R Do, NO Stitziel, BM Neale, PJ McLaren, N Gupta, ...
Nature genetics 44 (6), 623, 2012
4512012
Exome sequencing can improve diagnosis and alter patient management
TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ...
Science translational medicine 4 (138), 138ra78-138ra78, 2012
2612012
The functional spectrum of low-frequency coding variation
GT Marth, F Yu, AR Indap, K Garimella, S Gravel, WF Leong, ...
Genome biology 12 (9), 1-17, 2011
2262011
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
B Pasaniuc, N Rohland, PJ McLaren, K Garimella, N Zaitlen, H Li, ...
Nature genetics 44 (6), 631-635, 2012
2082012
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, ...
The American Journal of Human Genetics 94 (2), 233-245, 2014
2032014
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
M Çalışkan, JX Chong, L Uricchio, R Anderson, P Chen, C Sougnez, ...
Human molecular genetics 20 (7), 1285-1289, 2011
1232011
Current protocols in bioinformatics
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Curr. Protoc. Bioinforma 11 (11.10), 1-11.10, 2002
1002002
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
L Liu, A Sabo, BM Neale, U Nagaswamy, C Stevens, E Lim, CA Bodea, ...
PLoS Genet 9 (4), e1003443, 2013
972013
Integrating long-range connectivity information into de Bruijn graphs
I Turner, KV Garimella, Z Iqbal, G McVean
Bioinformatics 34 (15), 2556-2565, 2018
392018
A framework for the detection of de novo mutations in family-based sequencing data
LC Francioli, M Cretu-Stancu, KV Garimella, M Fromer, WP Kloosterman, ...
European Journal of Human Genetics 25 (2), 227-233, 2017
242017
Repeat expansions confer WRN dependence in microsatellite-unstable cancers
N van Wietmarschen, S Sridharan, WJ Nathan, A Tubbs, EM Chan, ...
Nature 586 (7828), 292-298, 2020
92020
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