Small Insertion Detection

Small Insertion Detection is a variant calling method that identifies short genomic insertions, typically less than 50 base pairs, by analyzing discrepancies between sequencing reads and a reference genome to distinguish true insertion events from sequencing or alignment artifacts.

Publications

1.6K

Citations

138

Authors

Institutions

Publications per year

2017–2026

Parents

Variant Calling

Publications

SvABA: genome-wide detection of structural variants and indels by local assembly

Jeremiah A. Wala, Pratiti Bandopadhayay, Noah F. Greenwald et al. · Genome Research · 2018 · 478 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

J. Fah Sathirapongsasuti, Hane Lee, Basil A. Horst et al. · Bioinformatics · 2011 · 391 citations · Full text

Medicine, Genetics, Molecular Genetics +17

UDiTaS™, a genome editing detection method for indels and genome rearrangements

Georgia Giannoukos, Dawn Ciulla, Eugenio Marco et al. · BMC Genomics · 2018 · 139 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

Joep de Ligt, Philip M. Boone, Rolph Pfundt et al. · Human Mutation · 2013 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Manojkumar Kumaran, Umadevi Subramanian, Bharanidharan Devarajan · BMC Bioinformatics · 2019 · 89 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

1–5 of 19

Authors

138

CS
Chip Stewart
Broad Institute, United States
2 publications · 537 citations
2
h-index
JW
Joachim Weischenfeldt
University of Copenhagen, Denmark
2 publications · 537 citations
2
h-index
CZ
Cheng‐Zhong Zhang
Harvard University, United States
2 publications · 537 citations
2
h-index
PJ
Peter J. Campbell
Wellcome Sanger Institute, United Kingdom
2 publications · 537 citations
2
h-index
PB
Pratiti Bandopadhayay
Dana-Farber Cancer Institute, United States
2 publications · 537 citations
2
h-index

1–5 of 138

Institutions

1–8 of 75

Venues

PLoS ONE
2 publications · 59 citations
2
h-index
bioRxiv (Cold Spring Harbor Laboratory)
Repository · 2 publications · 73 citations
2
h-index
Nucleic Acids Research
2 publications · 74 citations
2
h-index
Bioinformatics
2 publications · 403 citations
2
h-index
BMC Genomics
2 publications · 157 citations
2
h-index

1–5