Results 121 to 130 of about 73,831 (171)

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source

Reducing INDEL calling errors in whole-genome and exome sequencing [PDF]

, 2014
Han Fang, Gholson J. Lyon
openalex  

Longitudinal Whole-Exome Sequencing Identifies Clonal Hematopoiesis and Genomic Heterogeneity as a Predictor of Treatment Outcome in Patients with Newly Diagnosed, Elderly Chronic Lymphocytic Leukemia. [PDF]

Int J Mol Sci
Jang HC, Song GY, Jeong H, Byun JM, Kong JH, Lee MW, Lee WS, Lee JH, Lee HS, Yhim HY, Yang DH.   +10 more
europepmc   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]

Int J Womens Health
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc   +1 more source

P665: Development and clinical validation of a whole-exome sequencing test using whole-genome sequencing by a small academic molecular diagnostics laboratory [PDF]

Jessica Albert, Meghan Delaney, Stephanie Major, Sachchida Nand Pandey, Erik Billings, Austin Dixon, Nhat Duong, Hasani Malcolm, Mahdi Moshgriz, Talia Silver   +9 more
openalex   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +1 more source

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations. [PDF]

Nat Commun
Hawkes G, Wright HIW, Beaumont RN, Chundru K, Hanson A, Jackson L, Murray A, Patel K, Frayling TM, Wright CF, Wood AR, Weedon MN.   +11 more
europepmc   +1 more source

Diagnostic impact of secondary findings from whole genome or whole exome sequencing in patients diagnosed with genetic eye disorders [PDF]

Setu Mehta, Bani Antonio‐Aguirre, Wendy L. See, Edward A. Esposito, Annabelle Pan, Carolyn Applegate, Kelsey S. Guthrie, Christy A. Smith, Jefferson J. Doyle, Mandeep S. Singh   +9 more
openalex   +1 more source