Genomics
Animal Mitochondrial Genetics
Next-generation Sequencing
Genome Annotation and Assembly
Genetic Screens
Human Genetics
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Updated: May 5, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
E Birney1, A Bateman, M E Clamp
1The European Bioinformatics Institute, Hinxton, Cambridge, UK. birney@ebi.ac.uk
The human genome sequence presents challenges for gene identification. Current methods struggle with the complexity of larger genomes, especially in vertebrates.
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