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For: Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A. TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. F1000Res 2017;6:664. [PMID: 28781756 PMCID: PMC5521161 DOI: 10.12688/f1000research.11168.2] [Citation(s) in RCA: 43] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/28/2017] [Indexed: 01/25/2023]  Open
Number Cited by Other Article(s)
1
Raj S, Peela SCM, Kumar H, Ramaiah S, Sistla S. Comparative genomic analysis of paired clinical isolates from a patient with recurrent melioidosis reveals a low within-host mutation rate. J Med Microbiol 2025;74. [PMID: 40232806 DOI: 10.1099/jmm.0.002003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/16/2025]  Open
2
Chen X, Wei S, Sun C, Yi Z, Wang Z, Wu Y, Xu J, Tao J, Chen H, Zhang M, Jiang Y, Lv H, Huang C. Computational Tools for Studying Genome Structural Variation. OMICS : A JOURNAL OF INTEGRATIVE BIOLOGY 2025;29:36-48. [PMID: 39905890 DOI: 10.1089/omi.2024.0200] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/06/2025]
3
Karpman D, Lindström ML, Möller M, Ivarsson S, Kristoffersson AC, Bekassy Z, Fogo AB, Elfving M. Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone. Clin Kidney J 2024;17:sfae213. [PMID: 39135939 PMCID: PMC11317836 DOI: 10.1093/ckj/sfae213] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/19/2024] [Indexed: 08/15/2024]  Open
4
Lysenkova Wiklander M, Arvidsson G, Bunikis I, Lundmark A, Raine A, Marincevic-Zuniga Y, Gezelius H, Bremer A, Feuk L, Ameur A, Nordlund J. A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing. Life Sci Alliance 2024;7:e202302481. [PMID: 38777370 PMCID: PMC11111970 DOI: 10.26508/lsa.202302481] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/14/2023] [Revised: 05/02/2024] [Accepted: 05/02/2024] [Indexed: 05/25/2024]  Open
5
Yuan T, Dong J, Jia B, Jiang H, Zhao Z, Zhou M. DTDHM: detection of tandem duplications based on hybrid methods using next-generation sequencing data. PeerJ 2024;12:e17748. [PMID: 39076774 PMCID: PMC11285389 DOI: 10.7717/peerj.17748] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2024] [Accepted: 06/24/2024] [Indexed: 07/31/2024]  Open
6
Jugas R, Vitkova H. ProcaryaSV: structural variation detection pipeline for bacterial genomes using short-read sequencing. BMC Bioinformatics 2024;25:233. [PMID: 38982375 PMCID: PMC11234778 DOI: 10.1186/s12859-024-05843-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/31/2024] [Accepted: 06/13/2024] [Indexed: 07/11/2024]  Open
7
Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CM, Eisfeldt J, Lindstrand A. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements. GENETICS IN MEDICINE OPEN 2024;2:101863. [PMID: 39669604 PMCID: PMC11613786 DOI: 10.1016/j.gimo.2024.101863] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 08/29/2023] [Revised: 06/18/2024] [Accepted: 06/20/2024] [Indexed: 12/14/2024]
8
Hanssen F, Garcia MU, Folkersen L, Pedersen A, Lescai F, Jodoin S, Miller E, Seybold M, Wacker O, Smith N, Gabernet G, Nahnsen S. Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery. NAR Genom Bioinform 2024;6:lqae031. [PMID: 38666213 PMCID: PMC11044436 DOI: 10.1093/nargab/lqae031] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2024] [Accepted: 03/23/2024] [Indexed: 04/28/2024]  Open
9
Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES 2024:2024.04.22.24305780. [PMID: 38712270 PMCID: PMC11071548 DOI: 10.1101/2024.04.22.24305780] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/08/2024]
10
Dharanipragada P, Zhang X, Liu S, Lomeli SH, Hong A, Wang Y, Yang Z, Lo KZ, Vega-Crespo A, Ribas A, Moschos SJ, Moriceau G, Lo RS. Blocking Genomic Instability Prevents Acquired Resistance to MAPK Inhibitor Therapy in Melanoma. Cancer Discov 2023;13:880-909. [PMID: 36700848 PMCID: PMC10068459 DOI: 10.1158/2159-8290.cd-22-0787] [Citation(s) in RCA: 42] [Impact Index Per Article: 21.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/12/2022] [Revised: 11/27/2022] [Accepted: 01/23/2023] [Indexed: 01/27/2023]
11
Hasegawa T, Kakuta M, Yamaguchi R, Sato N, Mikami T, Murashita K, Nakaji S, Itoh K, Imoto S. Impact of salivary and pancreatic amylase gene copy numbers on diabetes, obesity, and functional profiles of microbiome in Northern Japanese population. Sci Rep 2022;12:7628. [PMID: 35538098 PMCID: PMC9090785 DOI: 10.1038/s41598-022-11730-7] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2021] [Accepted: 04/18/2022] [Indexed: 11/25/2022]  Open
12
Maroilley T, Li X, Oldach M, Jean F, Stasiuk SJ, Tarailo-Graovac M. Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing. Sci Rep 2021;11:18258. [PMID: 34521941 PMCID: PMC8440550 DOI: 10.1038/s41598-021-97764-9] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2021] [Accepted: 08/30/2021] [Indexed: 12/14/2022]  Open
13
Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet 2021;12:708348. [PMID: 34512724 PMCID: PMC8427664 DOI: 10.3389/fgene.2021.708348] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/11/2021] [Accepted: 07/23/2021] [Indexed: 02/02/2023]  Open
14
A Comprehensive Map of Mycobacterium tuberculosis Complex Regions of Difference. mSphere 2021;6:e0053521. [PMID: 34287002 PMCID: PMC8386458 DOI: 10.1128/msphere.00535-21] [Citation(s) in RCA: 31] [Impact Index Per Article: 7.8] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]  Open
15
Gong T, Hayes VM, Chan EKF. Detection of somatic structural variants from short-read next-generation sequencing data. Brief Bioinform 2021;22:bbaa056. [PMID: 32379294 PMCID: PMC8138798 DOI: 10.1093/bib/bbaa056] [Citation(s) in RCA: 39] [Impact Index Per Article: 9.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2019] [Revised: 03/05/2020] [Accepted: 03/29/2020] [Indexed: 01/09/2023]  Open
16
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med 2021;13:40. [PMID: 33726816 PMCID: PMC7968334 DOI: 10.1186/s13073-021-00855-5] [Citation(s) in RCA: 152] [Impact Index Per Article: 38.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2020] [Accepted: 02/11/2021] [Indexed: 01/08/2023]  Open
17
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank. NPJ Genom Med 2021;6:8. [PMID: 33563995 PMCID: PMC7873199 DOI: 10.1038/s41525-021-00170-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2020] [Accepted: 12/24/2020] [Indexed: 02/07/2023]  Open
18
Eisfeldt J, Pettersson M, Petri A, Nilsson D, Feuk L, Lindstrand A. Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. Hum Genet 2020;140:775-790. [PMID: 33315133 PMCID: PMC8052244 DOI: 10.1007/s00439-020-02242-3] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/17/2020] [Accepted: 11/18/2020] [Indexed: 12/16/2022]
19
Subudhi PK, Garcia RS, Coronejo S, De Leon TB. A Novel Mutation of the NARROW LEAF 1 Gene Adversely Affects Plant Architecture in Rice (Oryza sativa L.). Int J Mol Sci 2020;21:ijms21218106. [PMID: 33143090 PMCID: PMC7672626 DOI: 10.3390/ijms21218106] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2020] [Revised: 09/25/2020] [Accepted: 10/26/2020] [Indexed: 11/17/2022]  Open
20
Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat 2020;41:1979-1998. [PMID: 32906200 PMCID: PMC7702065 DOI: 10.1002/humu.24106] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/10/2020] [Revised: 08/10/2020] [Accepted: 08/28/2020] [Indexed: 01/25/2023]
21
Dong J, Qi M, Wang S, Yuan X. DINTD: Detection and Inference of Tandem Duplications From Short Sequencing Reads. Front Genet 2020;11:924. [PMID: 32849857 PMCID: PMC7433346 DOI: 10.3389/fgene.2020.00924] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/29/2020] [Accepted: 07/24/2020] [Indexed: 11/21/2022]  Open
22
Soylev A, Le TM, Amini H, Alkan C, Hormozdiari F. Discovery of tandem and interspersed segmental duplications using high-throughput sequencing. Bioinformatics 2020;35:3923-3930. [PMID: 30937433 DOI: 10.1093/bioinformatics/btz237] [Citation(s) in RCA: 22] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2018] [Revised: 01/20/2019] [Accepted: 03/29/2019] [Indexed: 01/01/2023]  Open
23
Klar J, Engstrand-Lilja H, Maqbool K, Mattisson J, Feuk L, Dahl N. Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants. BMC Med Genomics 2020;13:85. [PMID: 32586322 PMCID: PMC7318369 DOI: 10.1186/s12920-020-00737-6] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/07/2020] [Accepted: 06/08/2020] [Indexed: 12/15/2022]  Open
24
Saba KH, Cornmark L, Hofvander J, Magnusson L, Nilsson J, van den Bos H, Spierings DC, Foijer F, Staaf J, Brosjö O, Sumathi VP, Lam SW, Szuhai K, Bovée JV, Kovac M, Baumhoer D, Styring E, Nord KH. Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma. JOURNAL OF PATHOLOGY CLINICAL RESEARCH 2020;6:231-237. [PMID: 32542935 PMCID: PMC7578308 DOI: 10.1002/cjp2.172] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/13/2020] [Revised: 05/05/2020] [Accepted: 05/11/2020] [Indexed: 12/18/2022]
25
Khalil AIS, Khyriem C, Chattopadhyay A, Sanyal A. Hierarchical discovery of large-scale and focal copy number alterations in low-coverage cancer genomes. BMC Bioinformatics 2020;21:147. [PMID: 32299346 PMCID: PMC7160937 DOI: 10.1186/s12859-020-3480-3] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2019] [Accepted: 04/01/2020] [Indexed: 12/15/2022]  Open
26
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing. BMC Bioinformatics 2020;21:128. [PMID: 32245405 PMCID: PMC7118897 DOI: 10.1186/s12859-020-3451-8] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2019] [Accepted: 03/10/2020] [Indexed: 12/28/2022]  Open
27
Andersson K, Malmgren B, Åström E, Nordgren A, Taylan F, Dahllöf G. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. Orphanet J Rare Dis 2020;15:80. [PMID: 32234057 PMCID: PMC7110904 DOI: 10.1186/s13023-020-01361-4] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2019] [Accepted: 03/17/2020] [Indexed: 02/07/2023]  Open
28
SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. PLoS Comput Biol 2020;16:e1007737. [PMID: 32182236 PMCID: PMC7100977 DOI: 10.1371/journal.pcbi.1007737] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2019] [Revised: 03/27/2020] [Accepted: 02/18/2020] [Indexed: 11/19/2022]  Open
29
Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A 2020;182:1143-1151. [PMID: 32125084 DOI: 10.1002/ajmg.a.61539] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/28/2019] [Revised: 01/29/2020] [Accepted: 02/05/2020] [Indexed: 02/05/2023]
30
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PLoS One 2020;15:e0228622. [PMID: 32040484 PMCID: PMC7010252 DOI: 10.1371/journal.pone.0228622] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2019] [Accepted: 01/20/2020] [Indexed: 12/21/2022]  Open
31
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A. Discovery of Novel Sequences in 1,000 Swedish Genomes. Mol Biol Evol 2020;37:18-30. [PMID: 31560401 PMCID: PMC6984370 DOI: 10.1093/molbev/msz176] [Citation(s) in RCA: 20] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]  Open
32
Garcia M, Juhos S, Larsson M, Olason PI, Martin M, Eisfeldt J, DiLorenzo S, Sandgren J, Díaz De Ståhl T, Ewels P, Wirta V, Nistér M, Käller M, Nystedt B. Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Res 2020;9:63. [PMID: 32269765 PMCID: PMC7111497 DOI: 10.12688/f1000research.16665.2] [Citation(s) in RCA: 117] [Impact Index Per Article: 23.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 07/03/2020] [Indexed: 12/13/2022]  Open
33
Garcia M, Juhos S, Larsson M, Olason PI, Martin M, Eisfeldt J, DiLorenzo S, Sandgren J, Díaz De Ståhl T, Ewels P, Wirta V, Nistér M, Käller M, Nystedt B. Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Res 2020;9:63. [PMID: 32269765 PMCID: PMC7111497 DOI: 10.12688/f1000research.16665.1] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 07/03/2020] [Indexed: 06/22/2024]  Open
34
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med 2019;11:68. [PMID: 31694722 PMCID: PMC6836550 DOI: 10.1186/s13073-019-0675-1] [Citation(s) in RCA: 100] [Impact Index Per Article: 16.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2019] [Accepted: 10/09/2019] [Indexed: 12/30/2022]  Open
35
Järviaho T, Bang B, Zachariadis V, Taylan F, Moilanen J, Möttönen M, Smith CIE, Harila-Saari A, Niinimäki R, Nordgren A. Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. Blood Adv 2019;3:2722-2731. [PMID: 31519648 PMCID: PMC6759729 DOI: 10.1182/bloodadvances.2018028795] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2018] [Accepted: 06/17/2019] [Indexed: 12/31/2022]  Open
36
Kosugi S, Momozawa Y, Liu X, Terao C, Kubo M, Kamatani Y. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing. Genome Biol 2019;20:117. [PMID: 31159850 PMCID: PMC6547561 DOI: 10.1186/s13059-019-1720-5] [Citation(s) in RCA: 283] [Impact Index Per Article: 47.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/15/2018] [Accepted: 05/20/2019] [Indexed: 01/01/2023]  Open
37
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS Genet 2019;15:e1007858. [PMID: 30735495 PMCID: PMC6368290 DOI: 10.1371/journal.pgen.1007858] [Citation(s) in RCA: 33] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/27/2018] [Accepted: 11/28/2018] [Indexed: 11/19/2022]  Open
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Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS Genet 2018;14:e1007780. [PMID: 30419018 PMCID: PMC6258378 DOI: 10.1371/journal.pgen.1007780] [Citation(s) in RCA: 24] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2018] [Revised: 11/26/2018] [Accepted: 10/23/2018] [Indexed: 01/25/2023]  Open
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Pettersson M, Eisfeldt J, Syk Lundberg E, Lundin J, Lindstrand A. Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis. Mutat Res 2018;812:1-4. [PMID: 30384002 DOI: 10.1016/j.mrfmmm.2018.10.001] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2018] [Accepted: 10/08/2018] [Indexed: 05/22/2023]
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Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Hum Mutat 2018;39:1456-1467. [PMID: 30080953 DOI: 10.1002/humu.23605] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2018] [Revised: 07/09/2018] [Accepted: 08/02/2018] [Indexed: 01/22/2023]
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Tran AN, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, Lötstedt B, Nordenskjöld M, Nordgren A, Nilsson D, Barbany G. High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. PLoS One 2018. [PMID: 29529047 PMCID: PMC5846771 DOI: 10.1371/journal.pone.0193928] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]  Open
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Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, Gustavsson P, Lindstrand A. Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. Hum Mutat 2018;39:495-505. [PMID: 29285825 DOI: 10.1002/humu.23388] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2017] [Revised: 11/21/2017] [Accepted: 12/15/2017] [Indexed: 02/04/2023]
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. Eur J Hum Genet 2017;25:1253-1260. [PMID: 28832569 PMCID: PMC5765326 DOI: 10.1038/ejhg.2017.130] [Citation(s) in RCA: 140] [Impact Index Per Article: 17.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2017] [Revised: 06/09/2017] [Accepted: 07/18/2017] [Indexed: 12/14/2022]  Open
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