Associated Papers
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
Identification of a novel allele HLA-DRB1*0478 by sequence-based typing in a Chinese individual.
Gao SQ et al.
Tissue Antigens, 2009
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