Kiran Garimella
Kiran Garimella
Wellcome Trust Centre for Human Genetics, University of Oxford
Verified email at - Homepage
Cited by
Cited by
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
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), 491-498, 2011
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
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
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
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
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
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
Variation in genome-wide mutation rates within and between human families
Nature genetics 43 (7), 712-714, 2011
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), 623-630, 2012
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
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
The functional spectrum of low-frequency coding variation
GT Marth, F Yu, AR Indap, K Garimella, S Gravel, WF Leong, ...
Genome biology 12, 1-17, 2011
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
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
Transcriptome variation in human tissues revealed by long-read sequencing
DA Glinos, G Garborcauskas, P Hoffman, N Ehsan, L Jiang, A Gokden, ...
Nature 608 (7922), 353-359, 2022
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
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 genetics 9 (4), e1003443, 2013
Current protocols in bioinformatics
GA Van der Auwera
(No Title), 11.10. 1, 2013
Integrating long-range connectivity information into de Bruijn graphs
I Turner, KV Garimella, Z Iqbal, G McVean
Bioinformatics 34 (15), 2556-2565, 2018
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Articles 1–20