Search Results - "Eisfeldt, Jesper"

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier by Eisfeldt, Jesper, Pettersson, Maria, Petri, Anna, Nilsson, Daniel, Feuk, Lars, Lindstrand, Anna

“…Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis is rare…”
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A database on differentially expressed microRNAs during rodent bladder healing by Chamorro, Clara Ibel, Eisfeldt, Jesper, Willacy, Oliver, Juul, Nikolai, Fossum, Magdalena

“…Urinary bladder wound healing relies on multiple biological events that are finely tuned in a spatial–temporal manner. MicroRNAs are small non-coding RNA…”
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TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; peer review: 2 approved] by Eisfeldt, Jesper, Vezzi, Francesco, Olason, Pall, Nilsson, Daniel, Lindstrand, Anna

“…Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) is a…”
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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing by Thutkawkorapin, Jessada, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

“…DNA damage accumulates over the course of cancer development. The often-substantial amount of somatic mutations in cancer poses a challenge to traditional…”
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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients by Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma

“…Analysis of cell-free tumour DNA, a liquid biopsy, is a promising biomarker for cancer. We have performed a proof-of principle study to test the applicability…”
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Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 1; peer review: 2 approved] by Garcia, Maxime, Juhos, Szilveszter, Larsson, Malin, Olason, Pall I, Martin, Marcel, Eisfeldt, Jesper, DiLorenzo, Sebastian, Sandgren, Johanna, Díaz De Ståhl, Teresita, Ewels, Philip, Wirta, Valtteri, Nistér, Monica, Käller, Max, Nystedt, Björn

“…Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and…”
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Insights into cellular behavior and micromolecular communication in urothelial micrografts by Juul, Nikolai, Willacy, Oliver, Mamand, Doste R., Andaloussi, Samir El, Eisfeldt, Jesper, Chamorro, Clara I., Fossum, Magdalena

“…Autologous micrografting is a technique currently applied within skin wound healing, however, the potential use for surgical correction of other organs with…”
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Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation by ten Berk de Boer, Esmee, Ameur, Adam, Bunikis, Ignas, Ek, Marlene, Stattin, Eva-Lena, Feuk, Lars, Eisfeldt, Jesper, Lindstrand, Anna

“…Long-read genome sequencing (lrGS) is a promising method in genetic diagnostics. Here we investigate the potential of lrGS to detect a disease-associated…”
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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements by Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Syk Lundberg, Elisabeth, Carvalho, Claudia M B, Lindstrand, Anna

“…Complex chromosomal rearrangements (CCRs) are rearrangements involving more than two chromosomes or more than two breakpoints. Whole genome sequencing (WGS)…”
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Long-read whole-genome analysis of human single cells by Hård, Joanna, Mold, Jeff E., Eisfeldt, Jesper, Tellgren-Roth, Christian, Häggqvist, Susana, Bunikis, Ignas, Contreras-Lopez, Orlando, Chin, Chen-Shan, Nordlund, Jessica, Rubin, Carl-Johan, Feuk, Lars, Michaëlsson, Jakob, Ameur, Adam

“…Long-read sequencing has dramatically increased our understanding of human genome variation. Here, we demonstrate that long-read technology can give new…”
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Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis by Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna

“…Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in…”
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Loqusdb: added value of an observations database of local genomic variation by Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik

“…Abstract Background Exome and genome sequencing is becoming the method of choice for rare disease diagnostics. One of the key challenges remaining is…”
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Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans by Wang, Sailan, Nikamo, Pernilla, Laasonen, Leena, Gudbjornsson, Bjorn, Ejstrup, Leif, Iversen, Lars, Lindqvist, Ulla, Alm, Jessica J, Eisfeldt, Jesper, Zheng, Xiaowei, Catrina, Sergiu-Bogdan, Taylan, Fulya, Vaz, Raquel, Ståhle, Mona, Tapia-Paez, Isabel

“…Psoriatic arthritis mutilans (PAM) is the rarest and most severe form of psoriatic arthritis, characterized by erosions of the small joints and osteolysis…”
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AMYCNE: Confident copy number assessment using whole genome sequencing data by Eisfeldt, Jesper, Nilsson, Daniel, Andersson-Assarsson, Johanna C, Lindstrand, Anna

“…Copy number variations (CNVs) within the human genome have been linked to a diversity of inherited diseases and phenotypic traits. The currently used…”
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia by Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna

“…Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of…”
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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization by Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna

“…Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases…”
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Discovery of non-reference processed pseudogenes in the Swedish population by Ten Berk de Boer, Esmee, Bilgrav Saether, Kristine, Eisfeldt, Jesper

“…The vast majority of the human genome is non-coding. There is a diversity of non-coding features, some of which have functional importance. Although the…”
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Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia by Rezayee, Fatemah, Eisfeldt, Jesper, Skaftason, Aron, Öfverholm, Ingegerd, Sayyab, Shumaila, Syvänen, Ann Christine, Maqbool, Khurram, Lilljebjörn, Henrik, Johansson, Bertil, Olsson-Arvidsson, Linda, Pietras, Christina Orsmark, Staffas, Anna, Palmqvist, Lars, Fioretos, Thoas, Cavelier, Lucia, Fogelstrand, Linda, Nordlund, Jessica, Wirta, Valtteri, Rosenquist, Richard, Barbany, Gisela

“…The suitability of whole-genome sequencing (WGS) as the sole method to detect clinically relevant genomic aberrations in B-cell acute lymphoblastic leukemia…”
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Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model by Schuy, Jakob, Eisfeldt, Jesper, Pettersson, Maria, Shahrokhshahi, Niloofar, Moslem, Mohsen, Nilsson, Daniel, Dahl, Niklas, Shahsavani, Mansoureh, Falk, Anna, Lindstrand, Anna

“…Induced pluripotent stem cells (iPSCs) from patients are an attractive disease model to study tissues with poor accessibility such as the brain. Using this…”
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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome by Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S, Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E, Lachman, Ralph S, Nishimura, Gen, Grigelioniene, Giedre

“…is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in are associated…”
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