HiVA

Real cases in which we used HiVA

Proof of concept
NGS-based PGT

We established scGBS and HiVA for single-cell analysis using single cells derived from individuals GM12882 and GM12887 of the CEPH/Utah 1463 HapMap family.

GM12882
GM12887

In this analysis, we used multi-cell DNA samples of GM12882 as a seed to phase the parental genotypes and deduce parental haplarithms in GM12887 multi-cell and single-cell DNA samples.

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of GM12887 as a seed to phase the parental genotypes and deduce parental haplarithms in GM12882 multi-cell and single-cell DNA samples.

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

We established scGBS and HiVA for single-cell analysis using single cells derived from individuals GM12882 and GM12887 of the CEPH/Utah 1463 HapMap family.

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: BRCA2; Mode of inheritance: Autosomal dominant

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of an affected child to phase the parental genotypes and deduce parental haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: CFTR; Mode of inheritance: Autosomal recessive

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of an affected child to phase the parental genotypes and deduce parental haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: DMPK; Mode of inheritance: Autosomal dominant

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: RP3; Mode of inheritance: X-linked recessive

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: SCN5A; Mode of inheritance: Autosomal dominant

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos.
Indication: Gene: PKD1; Mode of inheritance: Autosomal dominant

Family Pedigree
scGBS raw genotype file	scGBS raw CNV file
SNP-array raw genotype file

Real cases in which we used HiVA

In this analysis, we used multi-cell DNA samples of GM12882 as a seed to phase the parental genotypes and deduce parental haplarithms in GM12887 multi-cell and single-cell DNA samples.

In this analysis, we used multi-cell DNA samples of GM12887 as a seed to phase the parental genotypes and deduce parental haplarithms in GM12882 multi-cell and single-cell DNA samples.

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: BRCA2; Mode of inheritance: Autosomal dominant

In this analysis, we used multi-cell DNA samples of an affected child to phase the parental genotypes and deduce parental haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: CFTR; Mode of inheritance: Autosomal recessive

In this analysis, we used multi-cell DNA samples of an affected child to phase the parental genotypes and deduce parental haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: DMPK; Mode of inheritance: Autosomal dominant

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: RP3; Mode of inheritance: X-linked recessive

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: SCN5A; Mode of inheritance: Autosomal dominant

In this analysis, we used multi-cell DNA samples of maternal grandparents to phase the maternal genotypes and deduce maternal haplotypes/haplarithms in single-cell DNA samples derived from preimplantation embryos. Indication: Gene: PKD1; Mode of inheritance: Autosomal dominant