A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians [Link: https://doi.org/10.1002/humu.24172 ]
Neethukrishna Kausthubham1, Anju Shukla1, Neerja Gupta2, Gandham SriLakshmi Bhavani1, Samarth Kulshrestha3, Aneek Das Bhowmik4,5, Amita Moirangthem6, Sunita Bijarnia-Mahay3, Madhulika Kabra2, Ratna Dua Puri3, Kausik Mandal6, Ishwar C Verma3, Stephanie L Bielas7, Shubha R Phadke6, Ashwin Dalal4, Katta M Girisha1
Katta M Girisha, MD, DM
Variant dataset (GRCh37/hg19)
Ready to integrate (along with ANNOVAR annotation) allele frequencies and counts of heterozygous and homozygous alleles from original and refined cohort can be downloaded using the following link (Right click and select "Save link as" to download the data).
The de-identified variant data and phenotypic features of the individuals are available at respective centers upon reasonable request.
- Original cohort is based on 1455 exomes which includes related and undiagnosed individuals and the following files are available in the folder 'Original_Cohort'.
- Original_Cohort_Allele_Frequencies: Altered allele frequencies derived based on original cohort
- Original_Cohort_Allele_Numbers: Total number of alleles observed in original cohort
- Original_Cohort_Heterozygotes: Number of heterozygotes observed for each of the variants in original cohort
- Original_Cohort_Homozygotes: Number of homozygotes observed for each of the variants in original cohort
- Refined cohort is based on 836 exomes by discounting the disease-causing genomic variants with respect to the phenotype of the affected individuals and relatedness amongst the individuals. Individuals without a diagnosis are excluded from the refined cohort. The following files are available in the folder 'Refined_Cohort'.
- Refined_Cohort_Allele_Frequencies: Altered allele frequencies derived based on refined cohort
- Refined_Cohort_Allele_Numbers: Total number of alleles observed in refined cohort
- Refined_Cohort_Heterozygotes: Number of heterozygotes observed for each of the variants in refined cohort
- Refined_Cohort_Homozygotes: Number of homozygotes observed for each of the variants in refined cohort
Last updated on : Friday, 29th January, 2021.