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Pathogenic Variants inย ABHD16Aย Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than […]
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The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity
Individual and population susceptibilities to disease remain a murky area of investigation, clouded by past […]
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Novel Homozygous Missense Mutation in theย ARG1 Gene in a Large Sudanese Family
Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of […]
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EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways
Background: Breast cancer (BC) ranks among the most common cancers in Sudan and worldwide with hefty […]
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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Background The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the […]
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Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism
Archeological and paleontological evidences point to East Africa as the likely area of early evolution […]
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The Episode of Genetic Drift Defining the Migration of Humans out of Africa Is Derived from a Large East African Population Size
Human genetic variation particularly in Africa is still poorly understood. This is despite a consensus […]
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Recent Posts
- Pathogenic Variants inย ABHD16Aย Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
- The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity
- Novel Homozygous Missense Mutation in theย ARG1 Gene in a Large Sudanese Family
- EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways
- Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
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