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Employment (1)

Broad Institute: Cambridge, MA, US

2019-01-07 to present | Director of Computational Biology (Data Sciences Platform)
Employment
Source: Self-asserted source
Kiran Garimella

Education and qualifications (2)

University of Oxford: Oxford, Oxfordshire, GB

2016-11-01 to 2018-12-15 | Post-doctoral researcher (Big Data Institute)
Qualification
Source: Self-asserted source
Kiran Garimella

University of Oxford: Oxford, Oxfordshire, GB

2011-10-01 to 2016-11-01 | DPhil, Genomic Medicine and Statistics (Wellcome Trust Centre for Human Genetics)
Education
Source: Self-asserted source
Kiran Garimella

Works (33)

Fast and exact gap-affine partial order alignment with POASTA

Bioinformatics
2024-12-26 | Journal article
DOI: 10.1093/bioinformatics/btae757
Contributors: Lucas R van Dijk; Abigail L Manson; Ashlee M Earl; Kiran V Garimella; Thomas Abeel; Peter Robinson
Source: check_circle
Crossref

Fast and exact gap-affine partial order alignment with POASTA

2024-05-27 | Preprint
DOI: 10.1101/2024.05.23.595521
Contributors: Lucas R. van Dijk; Abigail L. Manson; Ashlee M. Earl; Kiran V Garimella; Thomas Abeel
Source: check_circle
Crossref

High-throughput RNA isoform sequencing using programmed cDNA concatenation

Nature Biotechnology
2024-04 | Journal article
DOI: 10.1038/s41587-023-01815-7
Part of ISSN: 1087-0156
Part of ISSN: 1546-1696
Contributors: Aziz Al'Khafaji; Jonathan T. Smith; Kiran V. Garimella; Mehrtash Babadi; Victoria Popic; Moshe Sade-Feldman; Michael Gatzen; Siranush Sarkizova; Marc A. Schwartz; Emily Blaum et al.
Source: Self-asserted source
Kiran Garimella

Novel syndromic neurodevelopmental disorder caused by de novo deletion ofCHASERR, a long noncoding RNA

2024-02-07 | Preprint
DOI: 10.1101/2024.01.31.24301497
Contributors: Vijay S. Ganesh; Kevin Riquin; Nicolas Chatron; Kay-Marie Lamar; Miriam C. Aziz; Pauline Monin; Melanie O’Leary; Julia K. Goodrich; Kiran V. Garimella; Eleina England et al.
Source: check_circle
Crossref

Utility of long-read sequencing for All of Us

Nature Communications
2024-01-29 | Journal article
DOI: 10.1038/s41467-024-44804-3
Part of ISSN: 2041-1723
Contributors: medhat mahmoud; Y. Huang; K. Garimella; Peter Audano; W. Wan; N. Prasad; Robert Handsaker; S. Hall; A. Pionzio; Michael Schatz et al.
Source: Self-asserted source
Kiran Garimella

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

Genome Research
2023-12 | Journal article
DOI: 10.1101/gr.278070.123
Contributors: William T. Harvey; Peter Ebert; Jana Ebler; Peter A. Audano; Katherine M. Munson; Kendra Hoekzema; David Porubsky; Christine R. Beck; Tobias Marschall; Kiran Garimella et al.
Source: check_circle
Crossref

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

2023-05-04 | Preprint
DOI: 10.1101/2023.05.04.539448
Contributors: William T. Harvey; Peter Ebert; Jana Ebler; Peter A. Audano; Katherine M. Munson; Kendra Hoekzema; David Porubsky; Christine R. Beck; Tobias Marschall; Kiran Garimella et al.
Source: check_circle
Crossref

Utility of long-read sequencing for All of Us

2023-01-24 | Preprint
DOI: 10.1101/2023.01.23.525236
Contributors: medhat mahmoud; Y. Huang; K. Garimella; P. A. Audano; W. Wan; N. Prasad; R. E. Handsaker; S. Hall; A. Pionzio; M. C. Schatz et al.
Source: Self-asserted source
Kiran Garimella

Transcriptome variation in human tissues revealed by long-read sequencing

Nature
2022-08-11 | Journal article
DOI: 10.1038/s41586-022-05035-y
Part of ISSN: 0028-0836
Part of ISSN: 1476-4687
Contributors: Dafni Glinos; Garrett Garbo; Paul J Hoffman; Nava Ehsan; Lihua Jiang; Alper Gokden; Xiaoguang Dai; Francois Aguet; Kathleen L. Brown; Kiran Garimella et al.
Source: Self-asserted source
Kiran Garimella

A beary good genome: Haplotype-resolved, chromosome-level assembly of the brown bear (Ursus arctos)

2022-06-18 | Preprint
DOI: 10.1101/2022.06.17.496447
Contributors: Ellie E. Armstrong; Blair W. Perry; Yongqing Huang; Kiran V. Garimella; Heiko T. Jansen; Charles T. Robbins; Nathan R. Tucker; Joanna L. Kelley
Source: check_circle
Crossref

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Genome Research
2022-03 | Journal article
DOI: 10.1101/gr.276013.121
Contributors: Kristen M. Laricchia; Nicole J. Lake; Nicholas A. Watts; Megan Shand; Andrea Haessly; Laura Gauthier; David Benjamin; Eric Banks; Jose Soto; Kiran Garimella et al.
Source: check_circle
Crossref

High-throughput RNA isoform sequencing using programmable cDNA concatenation

2021-10-01 | Other
DOI: 10.1101/2021.10.01.462818
Contributors: Aziz M. Al’Khafaji; Jonathan T. Smith; Kiran V Garimella; Mehrtash Babadi; Moshe Sade-Feldman; Michael Gatzen; Siranush Sarkizova; Marc A. Schwartz; Victoria Popic; Emily M. Blaum et al.
Source: check_circle
Crossref

Mitochondrial DNA variation across 56,434 individuals in gnomAD

2021-07-23 | Other
DOI: 10.1101/2021.07.23.453510
Contributors: Kristen M. Laricchia; Nicole J. Lake; Nicholas A. Watts; Megan Shand; Andrea Haessly; Laura Gauthier; David Benjamin; Eric Banks; Jose Soto; Kiran Garimella et al.
Source: check_circle
Crossref

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

The Journal of experimental medicine
2021-06-01 | Journal article
DOI: 10.1084/jem.20210444
PMID: 33857290
PMC: PMC8056752
Source: Self-asserted source
Kiran Garimella
grade
Preferred source (of 2)‎

Transcriptome variation in human tissues revealed by long-read sequencing

2021-01-23 | Preprint
DOI: 10.1101/2021.01.22.427687
Contributors: Dafni A Glinos; Garrett Garborcauskas; Paul Hoffman; Nava Ehsan; Lihua Jiang; Alper Gokden; Xiaoguang Dai; Francois Aguet; Kathleen L. Brown; Kiran Garimella et al.
Source: check_circle
Crossref

Repeat expansions confer WRN dependence in microsatellite-unstable cancers.

Nature
2020-09-30 | Journal article
DOI: 10.1038/s41586-020-2769-8
PMID: 32999459
Source: Self-asserted source
Kiran Garimella

Detection of simple and complex de novo mutations with multiple reference sequences.

Genome research
2020-08-19 | Journal article
DOI: 10.1101/gr.255505.119
PMID: 32817236
PMC: PMC7462078
Source: Self-asserted source
Kiran Garimella

Integrating long-range connectivity information into de Bruijn graphs.

Bioinformatics (Oxford, England)
2018-08-01 | Journal article
DOI: 10.1093/bioinformatics/bty157
PMID: 29554215
PMC: PMC6061703
Source: Self-asserted source
Kiran Garimella

A framework for the detection of de novo mutations in family-based sequencing data.

European journal of human genetics : EJHG
2016-11-23 | Journal article
DOI: 10.1038/ejhg.2016.147
PMID: 27876817
PMC: PMC5255947
Source: Self-asserted source
Kiran Garimella

A polygenic burden of rare disruptive mutations in schizophrenia.

Nature
2014-01-22 | Journal article
DOI: 10.1038/nature12975
PMID: 24463508
PMC: PMC4136494
Source: Self-asserted source
Kiran Garimella

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

PLoS genetics
2013-04-11 | Journal article
DOI: 10.1371/journal.pgen.1003443
PMID: 23593035
PMC: PMC3623759
Source: Self-asserted source
Kiran Garimella

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.

Current protocols in bioinformatics
2013-01-01 | Journal article
DOI: 10.1002/0471250953.bi1110s43
PMID: 25431634
PMC: PMC4243306
Source: Self-asserted source
Kiran Garimella

Exome sequencing can improve diagnosis and alter patient management.

Science translational medicine
2012-06-01 | Journal article
DOI: 10.1126/scitranslmed.3003544
PMID: 22700954
PMC: PMC4442637
Source: Self-asserted source
Kiran Garimella

Exome sequencing and the genetic basis of complex traits.

Nature genetics
2012-05-29 | Journal article
DOI: 10.1038/ng.2303
PMID: 22641211
PMC: PMC3727622
Source: Self-asserted source
Kiran Garimella

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.

Nature genetics
2012-05-20 | Journal article
DOI: 10.1038/ng.2283
PMID: 22610117
PMC: PMC3400344
Source: Self-asserted source
Kiran Garimella

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Nature
2012-04-04 | Journal article
DOI: 10.1038/nature11011
PMID: 22495311
PMC: PMC3613847
Source: Self-asserted source
Kiran Garimella

The functional spectrum of low-frequency coding variation.

Genome biology
2011-09-14 | Journal article
DOI: 10.1186/gb-2011-12-9-r84
PMID: 21917140
PMC: PMC3308047
Source: Self-asserted source
Kiran Garimella

Variation in genome-wide mutation rates within and between human families.

Nature genetics
2011-06-12 | Journal article
DOI: 10.1038/ng.862
PMID: 21666693
PMC: PMC3322360
Source: Self-asserted source
Kiran Garimella

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Nature genetics
2011-04-10 | Journal article
DOI: 10.1038/ng.806
PMID: 21478889
PMC: PMC3083463
Source: Self-asserted source
Kiran Garimella

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Human molecular genetics
2011-01-06 | Journal article
DOI: 10.1093/hmg/ddq569
PMID: 21212097
PMC: PMC3115579
Source: Self-asserted source
Kiran Garimella

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

The New England journal of medicine
2010-10-13 | Journal article
DOI: 10.1056/nejmoa1002926
PMID: 20942659
PMC: PMC3008575
Source: Self-asserted source
Kiran Garimella

A map of human genome variation from population-scale sequencing.

Nature
2010-10-01 | Journal article
DOI: 10.1038/nature09534
PMID: 20981092
PMC: PMC3042601
Source: Self-asserted source
Kiran Garimella

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Genome research
2010-07-19 | Journal article
DOI: 10.1101/gr.107524.110
PMID: 20644199
PMC: PMC2928508
Source: Self-asserted source
Kiran Garimella

Peer review (1 review for 1 publication/grant)

Review activity for Nature methods. (1)
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