Glossary / Bioinformatics

Bioinformatics

Allele Allele Frequency

BAM File Base Pairs

CNV (Copy Number Variation)

DNA, First generation sequencing, Next Generation Sequencing

FASTA File FASTQ File

Gene Annotations Genome Intervals

Phred Score

Raw Reads

Sequencing Depth SNP (Single Nucleotide Polymorphism) Somatic Mutations

Tabix

VCF File

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