The 100K Genomes Project

Genomics The 100,000 Genomes Project england What is a genome? Human cell Most cells in the human Chromosomes body have a complete set of genes DNA Your genome is one whole set of all your genes plus all the DNA between your genes. There are around 20,000 genes in your genome What is genomics? Genomics is the study of the whole genome and how it works, but has also come to have a broader meaning to include the way that the genome is interpreted and the technologies that have been developed because of it. Sequencing This means reading the human genome letter by letter (all 3 billion pairs of letters) In the past it has taken 13 years & £2 billion to read every letter of our genetic code Today it only takes 2 days & £1k to read every letter Before Your genome with 3 Billion pairs of letters in the human genome 5%[ AAGTAATATGC TTCTAGGCGTC were analysed Only the active genes were looked at TCAAGATGCAT CTAGCACAGC GCCCTTTATTA TCTCTATACTCA ACTACTAGGGC TATTICATATCT AAATACGCTCG AGGCTACTGAC 95% TTATGCTATCG ATCTCGAGCGC were unused TDCCGTAATTT All the non-gene TCGCGAATCAG sections that we didn't understand AAGTAATATGC were disregarded as useless TTCTAGGCGTC TCAAGATGCAT CTAGCACAGC GCCCTTTATTA Now ACG C We know that the non-gene (non-coding) parts of your genome may have a role to play so we look at the whole thing, every single letter, and how the different parts work together. Think of it as reading a book, every letter counts. AGTAATA CAAGATGC. icCCTTTATT CTACTAGG CAAC TAGGCL AGCACAGC TC TATACTC TTCATATC "CTAAT ACTAGG ACTAGGGC TCCGGGAG ACTAGGGC TGGAC (CATATC CATATCTCI TACAGAGCC "CATATCAA SCTACC ATGGU LATTACTAG TTCAGACTI STACCTAGI GCAGG JACGT. TTTCATAC CGACACTGI IATATGCTT ATGCATC .CG TGA. .CTAAGGG AAGGACAA GCGTGAC CAGCAC CGAAI TCATATCT GACG CGTATATG CTAGGGCA CTAGGGCI GGCAT" CATATCTAA CATATCTCT стсса IACTA ATACACCI ATGCTATCG TGGGCCCA AGGGCAT ICAIA ACCTAAT ACTACTAGG ACGTTATT ACACTAC CTAG ATGGAGA ATTTCATATC EGTAATTTT SCATTTC LATAI 7.GGCTACG. GAGCGTAA SAATCAGTT TAATTC We compare books (that is, other patients' genomes) and try and find letter relationships that match to better understand gene activity. Why? Looking at the whole genome will help us understand how disease develops and which treatments wilI be most effective. Around 40,000 people with cancer and 80% over 330,000 of rare diseases are genomic new cases of cancer reported every year and growing rare diseases will take part in the project