Reference Genomes Atlas
Authoritative reference directory of sequenced biological life forms across all major branches of life—from complete human assemblies (GRCh38.p14, T2T-CHM13) and model mammals to crops, yeasts, extremophilic archaea, and viral pathogens. Browse 100 curated landmark reference organisms below or search any of the 100,000+ sequenced genomes in the global NCBI Datasets repository in real time.
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Sample: Homo sapiens (Human) activeHigh-Throughput Sequencing File Formats & Coordinate Standards
Next-generation sequencing (NGS), long-read third-generation sequencing (PacBio HiFi, Oxford Nanopore), and single-cell omics rely on strictly standardized file specifications. Understand the exact coordinate conventions (0-based half-open vs. 1-based closed), mandatory headers, and companion index files across all pipeline stages.
FASTQ (Fast Quality)
The de facto standard for raw high-throughput nucleotide sequencing reads. Stores 4 lines per read: @header, sequence, '+' delimiter, and ASCII-encoded Phred quality scores (Q = -10 * log10(P_error)).
SRA (Sequence Read Archive)
NCBI's proprietary columnar compression format for archiving raw sequencing runs. SRA-lite preserves biological bases and original qualities while discarding auxiliary instrument tags.
POD5 / FAST5 (Nanopore Raw Signal)
Raw electrical ionic current signal recorded during translocation through Oxford Nanopore protein pores. POD5 is Oxford Nanopore's next-gen replacement for FAST5, built on Apache Arrow for 4-5x faster GPU basecalling.
Unmapped BAM (uBAM / CCS)
PacBio HiFi circular consensus sequencing (CCS) reads or 10x Genomics raw Chromium reads stored in BAM format with per-read kinetic tags (IPD, PulseWidth, Cell Barcode CB, UMI UB) prior to genome alignment.
FASTA (Genomic / Nucleotide)
Universal plain-text format for representing nucleotide or amino acid polymers. A header line starting with '>' is followed by IUPAC-encoded sequence strings. Indexed via samtools faidx for instant random region extraction.
2bit (UCSC Packed Nucleotide)
UCSC highly compressed binary representation where each nucleotide base (A, C, G, T) is packed into exactly 2 bits, with separate blocks for masked repeats ('N' and lowercase). Enables instant random access queries.
AGP (Assembly Golden Path)
Specification defining how larger chromosome and scaffold sequences are constructed from smaller contigs and cloning vectors, including orientation (+/-) and gap lengths.
SAM (Sequence Alignment/Map)
Standard human-readable tab-delimited alignment format specified by Heng Li et al. Contains 11 mandatory fields: QNAME, FLAG, RNAME, POS, MAPQ, CIGAR, RNEXT, PNEXT, TLEN, SEQ, QUAL followed by optional SAM tags.
BAM (Binary Alignment/Map)
BGZF (Blocked GNU Zip Format) compressed binary equivalent of SAM. Provides coordinate-sorted rapid random access via companion .bai index. The standard input format for variant callers, RNA quantification, and peak calling.
CRAM (Compressed Reference Alignment)
Reference-based columnar compression standard for sequence alignments. Stores only differences between reads and the underlying reference genome, achieving 40-60% smaller file sizes than BAM. Adopted by 1000 Genomes and UK Biobank.
GTF 2.2 (Gene Transfer Format)
Standard format defined by Ensembl and GENCODE for gene structure annotations. Strict 9-column format where column 9 contains semicolon-delimited key-value attributes: gene_id '...'; transcript_id '...'; gene_name '...'.
GFF3 (Generic Feature Format v3)
Hierarchical ontology-compliant genomic feature format maintained by Sequence Ontology (SO). Features have parent-child relations encoded in column 9 (ID=...; Parent=...). Preferred by NCBI, RefSeq, WormBase, and FlyBase.
BED (Browser Extensible Data)
UCSC interval format for genomic coordinates. BED3 defines chr, chromStart, chromEnd. BED6 adds name, score, strand. BED12 specifies exon blocks, thick starts/ends for CDS visualization. Crucial rule: 0-based start, 1-based end.
bigWig (Binary Continuous Signal Track)
Binary indexed format for continuous dense numerical data across genomes (e.g. RNA-seq read depth, ChIP-seq enrichment, conservation scores phyloP). Allows instant remote visualization over HTTP in genome browsers without downloading.
VCF 4.2/4.3 (Variant Call Format)
Standard specification for single nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), copy number variants (CNVs), and structural variations (SVs). 8 fixed columns (CHROM, POS, ID, REF, ALT, QUAL, FILTER, INFO) followed by FORMAT and sample genotypes.
BCF (Binary Variant Call Format)
Compressed binary representation of VCF. Because integer and float fields are packed into binary primitives rather than ASCII strings, bcftools performs filtering, merging, and querying up to 10x faster on BCF than on gzipped VCF.
GVCF (Genomic VCF)
Variant Call Format variant used by GATK and DeepVariant that records continuous non-variant reference blocks using symbolic allele
MEX (Matrix Market Sparse Format)
Tri-file sparse expression matrix standard produced by 10x Genomics CellRanger: matrix.mtx.gz (non-zero UMI counts), barcodes.tsv.gz (cellular barcodes), and features.tsv.gz (gene IDs and symbols).
H5AD (AnnData HDF5)
Primary storage container for Python single-cell genomics (Scanpy, scvi-tools, MuData). Stores count matrix (X), cell observations/metadata (obs), feature metadata (var), multidimensional embeddings (obsm: UMAP, PCA), and graph connectivities (obsp).
mmCIF / PDB (Macromolecular Structure)
Atomic coordinate format for 3D protein, nucleic acid, and ligand structures. Legacy PDB format is column-restricted (up to 99,999 atoms); modern PDBx/mmCIF supports unlimited atoms, complex assemblies, and AlphaFold confidence (pLDDT / PAE).