Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare
Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.
Liu X et al.
Frontiers in Genetics, 2022
36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease.
Dan H et al.
Annals of Human Genetics, 2020
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
Sung Y et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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