Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Nature Communications, 2020 With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey +20 more
doaj +1 more source
A domestic cat whole exome sequencing resource for trait discovery
Scientific Reports, 2021 Over 94 million domestic cats are susceptible to cancers and other common and rare diseases. Whole exome sequencing (WES) is a proven strategy to study these disease-causing variants.
Alana R. Rodney +13 more
doaj +1 more source
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
core +16 more sources
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Human Genomics, 2023 Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single ...
Burcu Yaldiz +11 more
doaj +1 more source
Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing
STAR Protocols, 2023 Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He +4 more
doaj +1 more source
Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]
PLoS ONE, 2012 The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang +3 more
doaj +1 more source
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]
, 2017 Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea +5 more
core +3 more sources
Semantic prioritization of novel causative genomic variants.
PLoS Computational Biology, 2017 Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.
Imane Boudellioua +9 more
doaj +1 more source
Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1) [PDF]
, 2014 Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72).
Bavegems, Valérie +7 more
core +2 more sources
Analysis of Archived Residual Newborn Screening Blood Spots After Whole Genome Amplification [PDF]
, 2015 Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material ...
Benstead-Hume, Graeme +7 more
core +3 more sources