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 Bhowmik^4,5, 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

Corresponding Author
Katta M Girisha, MD, DM
Email: girisha.katta@manipal.edu

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.

1. Original cohort is based on 1455 exomes which includes related and undiagnosed individuals and the following files are available in the folder 'Original_Cohort'.
1. Original_Cohort_Allele_Frequencies: Altered allele frequencies derived based on original cohort
2. Original_Cohort_Allele_Numbers: Total number of alleles observed in original cohort
3. Original_Cohort_Heterozygotes: Number of heterozygotes observed for each of the variants in original cohort
4. Original_Cohort_Homozygotes: Number of homozygotes observed for each of the variants in original cohort



2. 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'.
1. Refined_Cohort_Allele_Frequencies: Altered allele frequencies derived based on refined cohort
2. Refined_Cohort_Allele_Numbers: Total number of alleles observed in refined cohort
3. Refined_Cohort_Heterozygotes: Number of heterozygotes observed for each of the variants in refined cohort
4. Refined_Cohort_Homozygotes: Number of homozygotes observed for each of the variants in refined cohort