Results 111 to 120 of about 178,485 (305)

Plant Sequence Capture Optimised for Illumina Sequencing

Bio-Protocol, 2014
Plant Sequence Capture is used for targeted resequencing of whole exomes (all exons of a genome) of complex genomes e.g. barley and its relatives (Mascher et al., 2013).
Axel Himmelbach, Manuela Knauft , Nils Stein   +2 more
doaj   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Whole exome sequencing analysis identifies genes for alcohol consumption

Nature Communications
Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking.
Jujiao Kang, Yue-Ting Deng, Bang-Sheng Wu, Wei-Shi Liu, Ze-Yu Li, Shitong Xiang, Liu Yang, Jia You, Xiaohong Gong, Tianye Jia, Jin-Tai Yu, Wei Cheng, Jianfeng Feng   +12 more
doaj   +1 more source

Referee report. For: Accuracy of short tandem repeats genotyping tools in whole exome sequencing data [version 1; peer review: 1 approved, 1 approved with reservations]

, 2020
Ján Radvánszky
openalex   +1 more source

CMET-15. WHOLE EXOME SEQUENCING OF BRAIN METASTASES FROM COLORECTAL PRIMARY CANCERS REVEALS CLINICALLY ACTIONABLE MUTATIONS [PDF]

, 2018
Matthew R. Strickland, Mia Bertalan, Benjamin M. Kuter, Tareq A. Juratli, Victoria Melchert, Nancy Higgins, Michelle Toups, Alexander Kaplan, Ivanna V. Bihun, Naema Nayyar, María Martínez-Lage, Darrell R. Borger, Helen A. Shih, Theodore S. Hong, Priscilla K. Brastianos   +14 more
openalex   +1 more source

Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing

, 2022
Erhan Hüseyin CÖMERT, Emine Seda Güvendağ Güven, S. Guven   +2 more
openalex   +2 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing [PDF]

, 2018
Matthias Rath, Stefanie Spiegler, Tim M. Strom, Johannes Trenkler, Peter M. Kroisel, Ute Felbor   +5 more
openalex   +1 more source