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Kiran V. Garimella
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Displaying results 1-4 of
4
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Research
:
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
William T. Harvey
,
Peter Ebert
,
Jana Ebler
,
Peter A. Audano
,
Katherine M. Munson
,
Kendra Hoekzema
,
David Porubsky
,
Christine R. Beck
,
Tobias Marschall
,
Kiran Garimella
,
and
Evan E. Eichler
Genome Res.
December 2023
33
:
2029
-
2040
;
Published in Advance
December 7, 2023
,
doi:
10.1101/gr.278070.123
Abstract
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Resource
:
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M. Laricchia
,
Nicole J. Lake
,
Nicholas A. Watts
,
Megan Shand
,
Andrea Haessly
,
Laura Gauthier
,
David Benjamin
,
Eric Banks
,
Jose Soto
,
Kiran Garimella
,
James Emery
,
Genome Aggregation Database Consortium
,
Heidi L. Rehm
,
Daniel G. MacArthur
,
Grace Tiao
,
Monkol Lek
,
Vamsi K. Mootha
,
and
Sarah E. Calvo
Genome Res.
March 2022
32
:
569
-
582
;
Published in Advance
January 24, 2022
,
doi:
10.1101/gr.276013.121
Abstract
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Method
:
Detection of simple and complex de novo mutations with multiple reference sequences
Kiran V. Garimella
,
Zamin Iqbal
,
Michael A. Krause
,
Susana Campino
,
Mihir Kekre
,
Eleanor Drury
,
Dominic Kwiatkowski
,
Juliana M. Sá
,
Thomas E. Wellems
,
and
Gil McVean
Genome Res.
August 2020
30
:
1154
-
1169
;
Published in Advance
August 19, 2020
,
doi:
10.1101/gr.255505.119
Abstract
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Resource
:
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
,
and
Mark A. DePristo
Genome Res.
September 2010
20
:
1297
-
1303
;
Published in Advance
July 19, 2010
,
doi:
10.1101/gr.107524.110
Abstract
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