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The Variant Call Format (VCF) Version 4.2 Specification

1.2.7 Contig field format As with chromosomal sequences it is highly recommended (but not required) that the header include tags describing the contigs referred to in the VCF file. This furthermore allows these contigs to come from different files. The format

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Sequence Alignment/Map Format Specification

samtools.github.io

Template A DNA/RNA sequence part of which is sequenced on a sequencing machine or assembled from raw sequences. Segment A contiguous sequence or subsequence. Read A raw sequence that comes off a sequencing machine. A read may consist of multiple segments. For sequencing data, reads are indexed by the order in which they are sequenced.

  Specification, Template

Sequence Alignment/Map Format Speci cation

samtools.github.io

1.3 The header section Each header line begins with the character ‘@’ followed by one of the two-letter header record type codes de ned in this section.

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The Variant Call Format (VCF) Version 4.2 Specification

samtools.github.io

1.2.3 Filter field format FILTERs that have been applied to the data should be described as follows: ##FILTER=<ID=ID,Description="description"> 1.2.4 Individual format field format Likewise, Genotype fields specified in the FORMAT field should be described as follows: ##FORMAT=<ID=ID,Number=number,Type=type,Description="description">

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The Variant Call Format (VCF) Version 4.1 Specification

samtools.github.io

encouraged to use the rs number(s). No identifier should be present in more than one data record. If there is no identifier available, then the missing value should be used. (String, no whitespace or semicolons permitted) 4. REF - reference base(s): Each base must be one of A,C,G,T,N (case insensitive). Multiple bases are permitted.

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BASICS ON MOLECULAR BIOLOGY - Computer Science

www.cs.helsinki.fi

2 Cells • Fundamental working units of every living system. • Every organism is composed of one of two radically different types of cells: – prokaryoticcells – eukaryoticcells which have DNA inside anucleus. • Prokaryotes and Eukaryotes are descended from primitive cells and the results of 3.5 billion years of evolution.

  Basics, Biology, Molecular, Basics on molecular biology

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