Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Autor: Donna M. Muzny, Theodore Chiang, Emily E. Groopman, Yaping Yang, Ali G. Gharavi, Shu Wen, Jianhong Hu, Mariza de Andrade, Eric Venner, Magalie S. Leduc, Alexander Fedotov, Yunyun Jiang, Fritz J. Sedlazeck, Linyan Meng, Weimin Bi, John J. Connolly, Gail P. Jarvik, David S. Crosslin, Ian B. Stanaway, Hakon Hakonarson, Simon D. M. White, Tsung-Jung Wu, Xiuping Liu, Christine M. Eng, David Carrell, Eric Boerwinkle, David R. Murdock, William J Salerno, Daniel J. Schaid, Richard A. Gibbs

Publikováno v: Genetics in Medicine

Purpose:To provide a validated method to confidently identify exon-containing copy number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular focus on single-exon CNVs.Methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28832f475be74bdfff0010ef749a1cba
http://europepmc.org/articles/PMC6752313

Incorporation of genetic testing significantly increases the number of individuals diagnosed with familial hypercholesterolemia

Autor: Emily E. Brown, Thorsten M. Leucker, Kathleen Byrne, Seth S. Martin, Rebecca McClellan, Dorothy M. Davis, Steven R. Jones

Publikováno v: Journal of clinical lipidology. 14(3)

Background It is estimated that less than 10% of cases of familial hypercholesterolemia (FH) in the United States have been diagnosed. Low rates of diagnosis may in part be attributable to affected patients not meeting the clinical diagnostic criteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8e8210d5c6ff5e2694cb9d2ad116ff2
https://pubmed.ncbi.nlm.nih.gov/32220565

Epilepsies in Children with 2q24.3 Deletion/Duplication

Autor: Toshiyuki Yamamoto, Akihisa Okumura, Michihiko Takasu, Hirokazu Kurahashi

Publikováno v: Journal of Pediatric Epilepsy. :008-016

The chromosome 2q24.3 region appears to be important in childhood epilepsy and contains three genes encoding a sodium channel, which are involved in the disorder (SCN1A, SCN2A, and SCN3A). There have been several reports indicating an association bet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c6b4c4bf5ef64a203ace4d5c4f36b5e
https://doi.org/10.1055/s-0035-1554786

Copy Number Alterations in patients with mature B (Burkitt-type) acute lymphoblastic leukaemia treated with specific immunochemotherapy

Autor: Jesús María Hernández-Rivas, Pau Montesinos, Lourdes Escoda, Evarist Feliu, Mar Tormo, Lurdes Zamora, Josep-Maria Ribera, Patricia Martínez-Sánchez, Jordi Esteve, Isabel Granada, Jordi Ribera, Francesc Solé, Marta Pratcorona, Eulàlia Genescà

Publikováno v: Clinical Lymphoma Myeloma and Leukemia. 15:S174

S174 EBF1 and PAX5 deletions. In the IKZF1 deleted cohort, 13 patients (28%) showed whole gene deletions and Ik6 was the most recurrent short isoform (26%). Multivariate analysis showed that advanced age andEBF1 deletions were negative prognostic fac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc7bf2d09c81324a2b15ded212d03a1b
https://doi.org/10.1016/j.clml.2015.04.011

Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

Autor: Philip L. Beales, Mieke M. van Haelst, Rubin Wang, Piranit Nik Kantaputra, Rodger Palmer

Publikováno v: American Journal of Medical Genetics Part A, 149A(4), 833-4. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(4), 833-834. Wiley-Liss Inc.
van Haelst, M M, Wang, R, Kantaputra, P N, Palmer, R & Beales, P 2009, ' Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup) ', American Journal of Medical Genetics Part A, vol. 149A, no. 4, pp. 833-4 . https://doi.org/10.1002/ajmg.a.32722

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d527699c0e1daa705e73550f0d754af8
https://doi.org/10.1002/ajmg.a.32722