EGAGenomicsOtherhttps://ega-archive.org/studies/EGAS00001000877EGAEGA study EGAS00001000877Sequencing of two human samplesEGArestrictedMobile elements are major drivers in changing genomic architecture and can cause disease. The detection of mobile elements is hindered due to the low mappability of their highly repetitive sequences. We have developed an algorithm, called Mobster, to detect non-reference mobile element insertions in next generation sequencing data from both whole genome and whole exome studies. Mobster uses discordant read pairs and clipped reads in combination with consensus sequences of known active mobile elements. Mobster has a low false discovery rateand high recall rate for both L1 and Alu elements. Mobster is available at http://sourceforge.net/projects/mobster.Mobster: accurate detection of mobile element insertions in next generation sequencing data.Thung Djie Tjwan DT, de Ligt Joep J, Vissers Lisenka E M LE, Steehouwer Marloes M, Kroon Mark M, de Vries Petra P, Slagboom Eline P EP, Ye Kai K, Veltman Joris A JA, Hehir-Kwa Jayne Y JYHuman, wide, human being, Man (Taxonomy), wide/broad, Homo sapiens, Genomes, Modern Man, long, Modern, whole genome, broad, Man, human, Genomes.element., atomo, atomus, Element, elements, atome, anatomical unit, atom, body organ, atomsMan (Taxonomy), Analyses, Determination, Sequence Determination, long, Modern, humans., whole genome, Sequence Determinations, Sequencing, DNA Sequence Determination, Determinations, Human, DNA Sequence Analysis, DNA Sequence Analyses, Homo sapiens, DNA Sequencing, Modern Man, DNA Sequence Determinations, DNA Sequence, DNA, Analysis, Man, Sequence Analyses, DNA sequencingAW488255, other disease, whole exome, False, NetrinA, D430049E23Rik, Development, Repetitive Sequence, element, netrin, Repetitive Sequences, diseases, Hek6, Alu Repetitive Sequence, Consensus, disease or disorder, Cek6, diseases and disorders, Low, ENSMUSG00000074119., ERP, APUDoma, Erp, human disease, me75, Elkh, F, Elements, Tyrosine-protein kinase receptor EPH-2, EK6, SAP-2, Sap-2, D17Mit170, T1, non-neoplastic, neuroendocrine tumour, 2.7.10.1, Solute carrier family 6 member 2, anatomical unit, Etrp, body organ, CT27014, NET1, SLC6A5, disorder, Homo sapiens disease, Consensus Development, NAT1, elements, netA, Family, atom, NET, Net, Alu-Like Repetitive Sequence, Elk, ELK, Alu Families, C130099E04Rik, cou, Alu, Neuronally-expressed EPH-related tyrosine kinase, disorders, EPH tyrosine kinase 2, SAP2, medical condition, 9330129L11, neuroendocrine tumor, Tl3, Alu Repetitive, Tl2, net, neuroendocrine neoplasm, Sequences, read, Lr, Norepinephrine transporter, Sequence, Alu Repetitive Sequences, Algorithm, Diseases, condition, EPH-like kinase 6, atomo, atomus, atome, Element, atoms, Alu Element, whole genome, hEK6, CG18657, disease, DmelCG18657, Alu Family, EPHT2, Families, Bra, netrin AfalseWhole genome DNA sequencing for two long-lived humans.Two long-lived human samples were sequenced to a mean 20x coverage genome wide. Sequencing was done using the Illumina hi-seq platform, alignment to GRCh37/hg19 reference genome was done using the BWA alignment tool.2017-07-26 15:39:25EGAS00001000877960625348035EGAD00001001001EGAC00001000210