Results 1 to 10 of about 15,843,374 (297)

Opt‐in for secondary findings as part of diagnostic whole‐exome sequencing: Real‐life experience from an international diagnostic laboratory [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Discussion about the risks and benefits of offering secondary findings as part of genome‐wide diagnostics lacks real‐life data. We studied the opt‐in decisions of patients/families referred to whole exome study (WES) in Blueprint Genetics (BpG)
Minna Brunfeldt, Milja Kaare, Inka Saarinen, Juha Koskenvuo, Helena Kääriäinen   +4 more
doaj   +3 more sources

Actionable Exomic Secondary Findings in 280 Lebanese Participants

Frontiers in Genetics, 2020
The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide
Nadine Jalkh, Cybel Mehawej, Eliane Chouery   +2 more
doaj   +2 more sources

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

BMC Medical Genomics, 2021
Background Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure. Methods Sixty-one cancer
Jude Emmanuel Cléophat, Michel Dorval, Zaki El Haffaf, Jocelyne Chiquette, Stephanie Collins, Benjamin Malo, Vincent Fradet, Yann Joly, Hermann Nabi   +8 more
doaj   +2 more sources

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings [PDF]

Am J Hum Genet, 2023
Summary Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing.
K. McGurk, Xiaolei Zhang, P. Theotokis, K. Thomson, A. Harper, R. Buchan, Erica Mazaika, Elizabeth Ormondroyd, William T. Wright, D. Macaya, C. Pua, B. Funke, D. MacArthur, S. Prasad, S. Cook, M. Allouba, Yasmine Aguib, Magdi H. Yacoub, D. O’Regan, P. Barton, H. Watkins, L. Bottolo, J. Ware   +22 more
semanticscholar   +2 more sources

Why genomics researchers are sometimes morally required to hunt for secondary findings

BMC Medical Ethics, 2020
Background Genomic research can reveal ‘unsolicited’ or ‘incidental’ findings that are of potential health or reproductive significance to participants.
Julian J. Koplin, Julian Savulescu, Danya F. Vears   +2 more
doaj   +2 more sources

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

Molecular Genetics & Genomic Medicine, 2020
Background Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce.
Chieh‐Wen Kuo, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ching Hsu, Miao‐Zi Hung, I‐Lin Lin, Feipei Lai, Ni‐Chung Lee   +7 more
doaj   +2 more sources

Hysteroscopic findings in patients with secondary infertility [PDF]

Al-Azhar International Medical Journal, 2022
Background; decreased rates of gestation are detected in cases with uterine space irregularities. The correction of these irregularities was accompanying with better rates of gestation.
Basem Abdel Aziz, Mohammad Hassanin, Abd El-Nasser Hussein   +2 more
doaj   +1 more source

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2023
Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement.
David T. Miller, Kristy Lee, N. Abul-Husn, L. Amendola, K. Brothers, Wendy K. Chung, M. Gollob, A. Gordon, S. Harrison, R. E. Hershberger, Teri Klein, C. Sue Richards, D. Stewart, C. Martin   +13 more
semanticscholar   +1 more source

Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al. [PDF]

Genetics in Medicine, 2021
We were interested to read the recent update on recommendations for reporting of secondary findings in clinical sequencing1, and the accompanying updated list of genes in which secondary findings should be sought (ACMG SF v3.0)2.
K. McGurk, Sean L. Zheng, Albert Henry, Katherine S. Josephs, M. Edwards, A. de Marvao, N. Whiffin, Angharad M. Roberts, T. Lumbers, D. O’Regan, J. Ware   +10 more
semanticscholar   +1 more source

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Frontiers in Genetics, 2021
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow.
Vasily E. Ramensky, Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina   +21 more
doaj   +1 more source