Associated Papers
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
40982469 (PubMed )
Supplement: supplemental_materials_1_bbaf483.xlsx › Table_S5_
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_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-A2-A0ER-01A.domain
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.
Lalli MA et al.
Human Mutation, 2012
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