Results 191 to 200 of about 162,110 (330)

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification. [PDF]

BMC Genomics
Samitova A, Belova V, Vasiliadis I, Repinskaia Z, Gorodnicheva T, Romanov E, Pogosyan M, Gaysin E, Nazarenko T, Rebrikov D, Korostin D.   +10 more
europepmc   +1 more source

Exploring transmission dynamics in epidemiologically linked pulmonary tuberculosis cases and household contacts: a WGS-based investigation

Getachew Seid, Andrea Maurizio Cabibbe, Betselot Zerihun, Ayinalem Alemu, Getu Diriba, Gemechu Tadesse Leta, Wilber Sabiiti, Kiarash Moghaddasi, Ilaria Iannucci, Daniela María Cirillo, Saro Abdela, Solomon H Mariam, Balako Gumi   +12 more
openalex   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

An alternative genomic target for proper phylogenetic classification of canine distemper virus (Morbillivirus canis). [PDF]

Braz J Microbiol
van Tol Amaral Guerra SM, Becker AS, Silva Júnior JVJ, de Carvalho OV, Canal C, Silva Alves R, Weiblen R, Furtado Flores E.   +7 more
europepmc   +1 more source

A novel dual-membranes WGS reactor with palladium alloy and polyvinyl alcohol membranes for enhanced hydrogen recovery

, 2013
Masoud Rahimipanah, Majid Baniadam, Seyed Hossein Noie Baghban, Majid Mahdavian   +3 more
openalex   +1 more source

A computational method to predict methylation of CpG sites in Chr21 using sequence features from WGS with 450 K array features

Asmaa Abo Bakr Kamel, Nahla A. Belal, Yasser El-Sonbaty   +2 more
openalex   +1 more source

Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples [PDF]

, 2020
Louise de Schaetzen van Brienen, Maarten Larmuseau, Kim Van der Eecken, Frédéric De Ryck, Pauline Robbe, Anna Schuh, Jan Fostier, Piet Ost, Kathleen Marchal   +8 more
openalex   +1 more source

Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

British Journal of Haematology, EarlyView.
Summary Genomic technologies including next‐generation sequencing (NGS) and arrays for cytogenetic anomalies are now standard of care in England for the diagnostic evaluation of patients with suspected haematological malignancies. Challenges remain in the management of potential germline findings as a result of NGS panels and copy number variant ...
B. Speight, A. Hamblin, P. Talley, O. Tsoulaki, R. Robinson, P. Dean, J. Khorashad, A. Kulasekararaj, A. L. Godfrey, A. J. Mead, T. P. McVeigh, K. Snape, on behalf of Consensus Meeting Attendees   +12 more
wiley   +1 more source

Establishing a <i>Neisseria gonorrhoeae</i> whole-genome sequencing external quality assessment for the Antimicrobial Resistance Laboratory Network (AR Lab Network) regional laboratories. [PDF]

Microbiol Spectr
Reimche JL, Smith AC, Pham CD, Schmerer MW, Cartee JC, Bolden CB, Kersh EN, Gernert KM, Antimicrobial Resistance Laboratory Network GC Working Group.   +8 more
europepmc   +1 more source