KAPA HyperExome Probes from Roche

Product Specs
ItemKAPA HyperExome Probes
CompanyRoche
Price Supplier Page View Company Product Page
Catalog NumberKAPA HyperExome
QuantityEA
ApplicationsWhole Exome Sequencing

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Roche

Roche Diagnostics Corporation P.O. Box 50414 9115 Hague Road

Indianapolis, Indiana

United States

Phone: +1-800-262-1640
Fax: +1-800-428-2883
Technical Service Phone: +1-800-262-4911

Company Profile

Website: sequencing.roche.com

(1) CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersMolecular Genetics and Metabolism ReportsMarch 1, 2024Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fungwhole exome sequencing were all negative. Recently, a quad whole exome sequencing analysis was performed using the Roche KAPA HyperExome assay and in-house bioinformatics analysis based on Burrow-Wheeler Aligner and GATK HaplotypeCaller.

(2) Neonatal Kabuki syndrome caused by KMT2D mutation: A case reportMedicine (Baltimore)December 15, 2023Zhang Li, Zou Ningprepared. Then, the DNA of the target gene exon and near shear region is captured and enriched by Roche KAPA HyperExome chip. Finally, the MGISEQ-2000 sequencing platform is used for variant detection. In terms of the quality

(3) A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamicsBMC Med GenomicsDecember 8, 2023Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wangpatient (Fig. 1, II-2、II-6、II-8、III-7、III-13、III-15、III-19) and (II-4). Exome was captured using Roche KAPA HyperExome probes according to the manufacturer’s instructions (Roche Diagnostics, Indianapolis, IN, USA). Specifically,

(4) Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumabMolecular Genetics & Genomic MedicineNovember 1, 2023Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Guthe exons of the target gene and adjacent cleavage regions was captured and enriched using a Roche KAPA HyperExome chip. Lastly, mutation detection was performed using the MGISEQ‐2000 sequencing platform. A heterozygous

(5) A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar AtaxiaHuman HeredityOctober 27, 2023Senmao Chai, Deyang Liu, Yajing Liu, Ming Sangproband and his parents (IV-2, III-5, III-6) were sequenced by whole-exome sequencing (WES). The Roche KAPA HyperExome chip and MGISEQ-2000 sequencing platform (BGI) were used for in-solution enrichment of coding exons

(6) Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney diseaseFrontiers in MedicineOctober 11, 2023Jing Zhuang, Ailima Aierken, Dilina Yalikun, Jun Zhang, Xiaoqin Wang, Yongfang Ren, Xuefei Tian, Hong Jiangusing pre-capture ligation-mediated PCR (LM-PCR), purified, and enriched by array hybridization (Roche KAPA HyperExome, Madison, WI, USA) for 16−24 h at 47°C, followed by elution and post-capture amplification. The enriched

(7) Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosisHuman GenomicsOctober 3, 2023Susanna Nousiainen, Outi Kuismin, Siiri Reinikka, Roosa Manninen, Sara Khamaiseh, Mari Kuivalainen, Anna Terho, Sari Koivurova, Maarit Niinimäki, Kari Salokas, et al.was performed using SeqCap EZ MedExome kit (Roche, Basel, Switzerland) and of the FFPE samples with KAPA HyperExome kit (Roche). Paired-end sequencing with 150-bp read length for blood-derived DNA samples and 75-bp read

(8) An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics explorationBMC Medical GenomicsOctober 2, 2023Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wangsample gene and its upstream and downstream 20 bp regions were captured and amplified using a Roche KAPA HyperExome chip. After quality inspection, the MGISEQ-2000 high-throughput sequencing platform of MGI was used

(9) Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case reportWorld Journal of Clinical CasesSeptember 6, 2023Yu-Ting Chen, Wen-Ze Jiang, Ke-Da Luexons of the target gene and the DNA adjacent to the shear region were captured and enriched by Roche KAPA HyperExome microarray. Finally, the mutation was detected by the MGISEQ-2000 sequencing platform. WES showed a

(10) Whole-exome sequencing of rectal neuroendocrine tumorsEndocrine-Related CancerSeptember 1, 2023Yuanliang Li, Yiying Guo, Zixuan Cheng, Chao Tian, Yingying Chen, Ruao Chen, Fuhuan Yu, Yanfen Shi, Fei Su, Shuhua Zhao, et al.Inc.). Hybridization capture was carried out using the combined probe of KAPA HyperExplore Max and KAPA HyperExome (Roche molecular systems, Inc.). PCR amplification was carried out for seven to eight cycles according

(11) Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposisFrontiers in GeneticsAugust 31, 2023Yuefang Liu, Juan Xu, Qiaoyi Lv, Zhe Liang, Lingling Li, Qiong Pananalysis The whole exomes and intron regions, 20 bp preceding the exons, were captured by using the Roche KAPA HyperExome. Whole exome sequencing (WES) was conducted by the MGISEQ-2000. The raw data for the fetus, father,

(12) Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserveReproductive Biology and EndocrinologyAugust 24, 2023Yingjing Wan, Zhidan Hong, Binyu Ma, Xuanyi He, Ling Ma, Mei Wang, Yuanzhen Zhangprotocols. Genomic DNA was fragmented through sonication and exome capture was performed using the Roche KAPA HyperExome chip. The captured exome regions were then enriched and underwent library construction. Sequencing was

(13) Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variantsPeerJAugust 2, 2023Jiawen Wu, Zhongmou Sun, Dao Wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong WuExonic and adjacent intronic sequences were captured and enriched from genomic DNA using the Roche KAPA HyperExome Chip and were run on a MgISEQ-2000 sequencer to test mutations. The quality control index of sequencing

(14) Evaluation of in vitro and in vivo personalized cancer treatment assays for oral squamous cell carcinomaTranslational OncologyJuly 1, 2023Wafa Wahbi, Katja Korelin, Meri Sieviläinen, Peeter Karihtala, Tommy Wilkman, Jussi Tarkkanen, Tuula Salo, Ahmed Al-SamadiIndexes (UDI). The four separate sequencing libraries were combined and captured (4-plex) using Roche's KAPA HyperExome probes (target size 43 Mb) according to the manufacturer's instructions. The captured 4-plex library pool was

(15) Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene MutationClinical Medicine Insights: Endocrinology and DiabetesMay 26, 2023Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma AS Abosabiewell as the corresponding exon-intron boundaries were enriched using Roche KAPA capture technology (KAPA HyperExome Library), and then amplified, and sequenced simultaneously by Illumina technology (next-generation sequencing, NGS

(16) Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexesFrontiers in GeneticsMay 18, 2023Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařováthe leukocytes of the proband. Exome enrichment was performed on individually barcoded samples using KAPA HyperExome Probes (Roche). NovaSeq 6000 platform (Illumina) with 100 bp paired-end reads was used for sequencing. Data

(17) Гонадотропинзависимое преждевременное половое развитие: молекулярно-генетические и клинические характеристикиProblems of EndocrinologyMay 11, 2023D. A. Khabibullina, A. A. Kolodkina, T. V. Vizerov, N. A. Zubkova, O. B. BezlepkinaHyperCapture, Roche, Швейцария) производили в соответствии с протоколами производителя используя набор зондов KAPA HyperExome (Roche, Швейцария). Обработка данных секвенирования проведена с использованием автоматизированного алгоритма,

(18) A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndromeMolecular Genetics & Genomic MedicineMay 9, 2023Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu4.0 (Affymetrix). No chromosomal abnormalities were identified. Exome capture was done using Roche KAPA HyperExome probes according to the manufacturer's instructions (Roche Diagnostics). The library was constructed and sequenced

(19) Clinical and genetic findings in Chinese families with congenital ectopia lentisMolecular Genetics & Genomic MedicineMay 1, 2023Xin Liu, Liman Niu, Liyun Zhang, Liqiong Jiang, Kaiqing Liu, Xueping Wu, Xinhua Liu, Jiantao WangMGIEasy DNA Library Prep Kit (MGI). The library was enriched for 12 h at 65°C using array hybridization (KAPA HyperExome, ROCHE). After hybridization, the probe was washed and eluted, and post‐PCR purification of the captured

(20) Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)Virchows ArchivMarch 1, 2023Ana Echegoyen-Silanes, José Javier Pineda-Arribas, María Sánchez-Ares, Soledad Cameselle-García, Beatriz Sobrino, Clara Ruíz-Ponte, Magalí Piso-Neira, Emma Anda, José Manuel Cameselle-Teijeiroperformed using the KAPA HyperPrep Kit (Roche Sequencing Solutions, Inc.) for library preparation and KAPA HyperExome (Roche) for capturing the region of interest following KAPA HyperCap Workflow v3.2 manufacturer’s protocol.

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Figure 1. KAPA HyperExome yields greater % reads-on-target, deeper median coverage, and broader target coverage compared to the Supplier X Exome.

KAPA Target Enrichment Better By Design

KAPA HyperExome Probes from Roche

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KAPA HyperExome Probes from Roche

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