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Found 3 results
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Author
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Fernandes, Helen
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Journal Article
Huang L
,
Fernandes H
,
Zia H
,
Tavassoli P
,
Rennert H
,
Pisapia D
,
Imielinski M
,
Sboner A
,
Rubin MA
,
Kluk M
et al.
. 2017.
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
.
J Am Med Inform Assoc. 24(3):513-519.
Rennert H
,
Eng K
,
Zhang T
,
Tan A
,
Xiang J
,
Romanel A
,
Kim R
,
Tam W
,
Liu Y-C
,
Bhinder B
et al.
. 2016.
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
.
NPJ Genom Med. 1
Park K
,
Tran H
,
Eng KW
,
Ramazanoglu S
,
Rolon RMMarrero
,
Scognamiglio T
,
Borczuk A
,
Mosquera JMiguel
,
Pan Q
,
Sboner A
et al.
. 2020.
Performance Characteristics of a Targeted Sequencing Platform for Simultaneous Detection of Single Nucleotide Variants, Insertions/Deletions, Copy Number Alterations, and Gene Fusions in Cancer Genome.
.
Arch Pathol Lab Med.