We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95% of all expected heterozygous singe base variants, requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies.
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http://dx.doi.org/10.1186/gb-2010-11-6-r62 | DOI Listing |
BMC Genomics
January 2025
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russia.
Whole exome sequencing (WES) is essential for identifying genetic variants linked to diseases. This study compares available to date four exome enrichment kits: Agilent SureSelect Human All Exon v8, Roche KAPA HyperExome, Vazyme VAHTS Target Capture Core Exome Panel, and Nanodigmbio NEXome Plus Panel v1. We evaluated target design, coverage statistics, and variant calling accuracy across these four different exome capture products.
View Article and Find Full Text PDFJ Plant Physiol
January 2025
State Key Laboratory of Crop Gene Resources and Breeding/National Engineering Laboratory of Crop Molecular Breeding/CAEA Research and Development Centre on Nuclear Technology Applications for Irradiation Mutation Breeding, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China. Electronic address:
Plant height determines lodging resistance and is closely linked to yield stability in wheat. In this study, we identified two semi-dwarf wheat mutants, designated je0370 and je0344, using the winter wheat cultivar Jing411 as the wild type (WT). Field experiments revealed that the plant height of these two mutants was significantly lower than that of the WT.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
The Affiliated Hospital of Yunnan University (The Second People's Hospital of Yunnan Province), Kunming, Yunnan Province, China.
Purpose: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing.
Methods: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals.
Mov Disord Clin Pract
January 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Sci Rep
January 2025
Laboratory for Regenerative Biology, National Institute for Basic Biology, Okazaki, Aichi, Japan.
Analysis of genome-scale evolution has been difficult in large, endangered animals because opportunities to collect high-quality genetic samples are limited. There is a need for novel field-friendly, cost-effective genetic techniques. This study conducted an exome-wide analysis of a total of 42 chimpanzees (Pan troglodytes) across six African regions, providing insights into population discrimination techniques.
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