The human genome project took $3 billion and 15 years to complete. It sequenced over 90% of the human genome to over 99.99% accuracy. The current human reference genome, GRCh38, contains 3.23 gigabases across 23 chromosome pairs ranging in size from 48 to 249 megabases and codes for over 29,000 genes. The Encyclopedia of DNA Elements project has associated over 80% of the human genome with biochemical functions through various experimental techniques.

1. THE HUMAN
GENOME
Sachin S Rawat
04716001311

2. THE HGP
Took $3 billion and 15 years to complete.
Race between DOE-NIH (hierarchical shotgun) and Celera
Genomics (whole genome shotgun).
Sequenced only euchromatic regions (~90% of the genome).
>92% of sampling exceeded 99.99% accuracy.

3. Hierarchical shotgun sequencing Whole genome shotgun sequ

4. THE HUMAN GENOME GRCh38 –
Annotation Release 106
23 pairs of chromosomes amounting to 3.23gb.
Chromosomes range in size from 48mb (21) to 249mb (1).
29,399 genes – 68.9% code for proteins, <2% of the genome.
2.93 transcripts per gene, 11.4 exons per transcript.
High gene density in chromosomes 19, 11, and 1.
Gene size varies from 781nt (H1a) to 2.2mb (dystrophin).
Repetitive DNA sequences make up 50% of the genome.

5. Source: Mikael Häggström; Medical gallery of M

6. ENCyclopedia Of DNA Elements
80.4% of human genome now associated with biochemical
functions.
95% of genome lies within 8kb of a DNA-protein interaction.
90% SNPs found in non-coding regions.
399,124 regions serve as enhancers and 70,292 as promoters.
Promoter functionality correlates with RNA expression variation.
Long-range chromatin interactions facilitated by looping.

7. Elements Techniques Observations
RNA RNA-seq,
CAGE,
RNA-PET
10-12 expressed isoforms per gene per cell
line.
6% of transcripts overlap with sRNAs.
Range of expression spans 5-6 orders of
magnitude.
Protein-bound ChIP-seq 636,336 binding regions cover 8.1 % of the
genome.
DNase I
hyper-
sensitive sites
Dnase-seq,
FAIRE-seq
Aggregate to 3.9% of the genome.
Average of 1% of the genomic sequence in a
cell type.
DNA RRBS 96% CpGs show differential methylation.

8. MITOCHONDRIAL GENOME
Double-stranded, circular molecule of 16,569bp.
Contains 37 genes coding for two rRNAs, 22 tRNAs, and 13
polypeptides.
Code for subunits of enzyme complexes of the oxidative
phosphorylation system.
Replication controlled by nuclear genes, mtDNA has three promoters
(H1, H2, and L).
Transcription involves POLRMT, TFAM, TFBIM, and TFB2M.

10. World map of human migrations

11. APPLICATIONS
Forensics
Studying human evolution
Personalized genomics and medicine
Family genome sequencing

12. REFERENCES
The ENCODE project consortium; An integrated encyclopedia
of DNA elements in the human genome; Nature (2012)
Anderson et al.; Sequence and organization of the human
mitochondrial genome; Nature (1981)