Method

Variant calling and genotyping

Methods that identify and classify genetic variants—including SNPs, mutations, and tumor mutational burden—from sequencing data or genotyping arrays, used to characterize germline or somatic variation.

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Scholars using this

View all 28 scholars →

MF
Melissa FreyAssociate Professor of Obstetrics and Gynecology
MF
Melissa FreyAssociate Professor of Obstetrics and Gynecology
JC
Jonathan CanaaniAssociate Professor of Medicine
JC
Jonathan CanaaniAssociate Professor of Medicine
AP
Anna PodolanczukAssociate Professor of Clinical Medicine
AP
Anna PodolanczukAssociate Professor of Clinical Medicine
AS
Andrea Siobhan KieransAssociate Professor of Radiology
AS
Andrea Siobhan KieransAssociate Professor of Radiology
CH
Caitlin HoffmanAssociate Professor of Neurological Surgery
CH
Caitlin HoffmanAssociate Professor of Neurological Surgery
LB
Liming BaoProfessor of Clinical Pathology and Laboratory Medicine
LB
Liming BaoProfessor of Clinical Pathology and Laboratory Medicine

Spotlight

Variant calling and genotyping

RSRavi Sharaf MFMelissa Frey

Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026

Variant calling and genotyping

MPMadhu Pantrangi PDPaul Dylan Barone LBLiming Bao

Archives of pathology & laboratory medicine · 2026

Variant calling and genotyping

ASAndrea Siobhan Kierans JPJuan Pablo Rocca BSBenjamin Samstein EGEncouse Golden ECElizabeta Cristina Popa+1 more →

International journal of surgical pathology · 2024

View all 27 publications →

Publications

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Variant calling and genotyping

Scholars using this

Facilitated Cascade Genetic Testing for Relatives of Individuals With BRCA1/2 Pathogenic Variants: A Randomized Controlled Trial.

KMT2A Amplification in Mixed-Phenotype Acute Leukemia: Immunophenotyping, Cytogenomic Features, and Clinical Correlation.

Spectrum of Findings Seen in Patients With IDH1/2-Mutant Cholangiocarcinoma.