EGAGenomicsOtherhttps://ega-archive.org/studies/EGAS00001007195EGAEGA study EGAS00001007195Raw sequencing data for PicoCNV and MutLX2 development papersEGArestrictednumber, count in organism, Mutations., presence, cardinalityDNA (cytosine-5)-methyltransferase 1, close to, WGS, Bru, Malignant Neoplasm, DNS, Raw, Edg, (Deoxyribonucleotide)n, HSN1E, Neoplasms, DNAn+1, Benign Neoplasm, DNMT, Double-Stranded, Tumor, MCMT, Malignant, results, Deoxyribonucleic acids, (Deoxyribonucleotide)n+m, near to, read, Aim, AIM, MT, Benign, Client., Deoxyribonucleic Acid, DNA methyltransferase HsaI, Neoplasm, Del(8)44H, ds-DNA, desoxyribose nucleic acid, END, CXXC9, Svc, DNMT1, study, ADCADN, primary cancer, thymus nucleic acid, Col4a-1, UNQ203/PRO229, CT-2, Malignancy, Genomes, DNMT1_HUMAN, DNA (cytosine-5-)-methyltransferase 1, Benign Neoplasms, Double Stranded, Deoxyribonucleic acid, Cancers, Dietary Fiber, malignant tumor, CXXC-type zinc finger protein 9, Malignant Neoplasms, Neoplasias, API6, Patient, malignant neoplasm, approaches, Clients, ds DNA, vicinity of, Desoxyribonukleinsaeure, Malignancies, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, pg, DNAn, ORW1, CXXC finger protein 9, Neoplasia, CLEC2C, HHT1, m.HsaI, Cancer, Tumors, DNA MTase HsaIfalseDeveloping somatic copy number and mutation calling tools for a bespoke sequencing platformWe previously developed a linked-read sequencing platform (DigiPico) for analysing whole cancer genomes from picogram quantities of tumour DNA. The aim of this study was to develop and evaluate the specialised computational approaches required to obtain clinically useful results from the raw data. To this end, we performed matched DigiPico, bulk tumour and germline WGS on samples from four patients.2023-05-04 15:13:07EGAS000010071959606EGAD00001010302EGAC00001000518