The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

Subjects: “…Genome sequencing…”
Get full text

Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases by Gerald Goh, Murim Choi

Subjects: Get full text

misMM: An Integrated Pipeline for Misassembly Detection Using Genotyping-by-Sequencing and Its Validation with BAC End Library Sequences and Gene Synteny by Young-Joon Ko, Jung Sun Kim, Sangsoo Kim

Subjects: Get full text

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7 by Nicholas Pasternack, Nicholas Pasternack, Ole Paulsen, Avindra Nath

Subjects: “…DNA sequencing…”
Get full text

Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC) by Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan

Subjects: Get full text

Current Challenges in Bacterial Transcriptomics by Suhyung Cho, Yoobok Cho, Sooin Lee, Jayoung Kim, Hyeji Yum, Sun Chang Kim, Byung-Kwan Cho

Subjects: Get full text

Identification and genetic analysis of the recent Avian pox viruses from infected pigeons and chickens by Amira M. Helal, Osama Mahana, Ali Zanaty, Karim Selim, Mohamed. E. Taha, Mostafa M. Saleh, Mohamed I. Hassan, Mona S. Abdallah

Subjects: Get full text

MeStanG—Resource for High-Throughput Sequencing Standard Data Sets Generation for Bioinformatic Methods Evaluation and Validation by Daniel Ramos Lopez, Francisco J. Flores, Andres S. Espindola

Subjects: Get full text

Near-Complete Avipoxvirus Genome Assembled from Skin Lesions of Dead Eurasian Crane (<i>Grus grus</i>) by Eszter Kaszab, Endre Sós, Krisztina Bali, Viktória Sós-Koroknai, Edina Perge, Krisztina Ursu, Szilvia Marton, Márton Hoitsy, Gábor Kemenesi, Krisztián Bányai

Subjects: Get full text

Molecular Detection and Determination of Phylogenetic Position of Watermelon Chlorotic Stunt Virus Khouzestan Isolate Based on Coat Protein Gene by Samira Pakbaz, Zahra Jelavi, Ehsan Hasanvand, Hossein Mirzaei Najafgholi

Subjects: Get full text

Protocol for correlating the gut microbiome and metabolomics in patients with intracranial aneurysms by Hongyu Xu, Zetian Jia, Junhui Liu, Runming Liu, Wei Wei, Xiang Li

Subjects: Get full text

LongReadSum: A fast and flexible quality control and signal summarization tool for long-read sequencing data by Jonathan Elliot Perdomo, Mian Umair Ahsan, Qian Liu, Li Fang, Kai Wang

Subjects: Get full text

Protocol for the isolation of silk glands from silkworms for snRNA-seq and spatial transcriptomics by Yan Ma, Keshu Dong, Jie Hu, Yiyun Tang, Hanfu Xu

Subjects: Get full text

Genome Sequencing Reveals the Adaptation of Chickens to High Altitudes in Different Regions by Yizhou Hu, Xing Li, Qixin Guo, Lan Huang, Hao Bai, Guobin Chang

Subjects: “…genome sequencing…”
Get full text

Metagenomic analysis of gut microbiota diversity in poultry before and after antibiotic administration by O. V. Prasolova, N. I. Malik, I. A. Timofeeva, N. A. Kirsanova, E. V. Krylova, E. V. Malik, I. A. Rusanov, N. A. Chupakhina

Subjects: Get full text

A sensitivity analysis of methodological variables associated with microbiome measurements by Samuel P. Forry, Stephanie L. Servetas, Jennifer N. Dootz, Monique E. Hunter, Jason G. Kralj, James J. Filliben, Scott A. Jackson

Subjects: Get full text

The Sequence of Prostaglandin-Endoperoxide Synthase 2 Gene in Women with Cervicitis by Maha A. Ahlial, Nazar Sh. Mohammed, Maysara S. Khalaf

Subjects: Get full text

Protocol for direct cDNA cap analysis of gene expression for paired-end patterned flow cell sequencing by Diane Delobel, Hiromi Nishiyori-Sueki, Ilaria Nisoli, Hideya Kawaji, Pauline Robbe, Piero Carninci, Hazuki Takahashi

Subjects: “…sequencing…”
Get full text

Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants by Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim

Subjects: Get full text

Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel by Seungkyu Choi, Jai Hyang Go, Eun Kyung Kim, Hojung Lee, Won Mi Lee, Chun-Sung Cho, Kyudong Han

Subjects: Get full text