Categoría: Articulos
-
MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
Heterozygous carriers of autosomal recessive disease variants are often considered clinically unaffected, yet population biobanks can reveal measurable carrier phenotypes. MMACHC (MIM: 609831) encodes an intracellular cobalamin-processing protein. Bi-a…
-
This month in The Journal
Large structural variants (SVs) impact a higher percentage of individual human genomes than SNVs or indels. Despite growing evidence that links them to a variety of phenotypes, SVs have received less attention during investigations into the genetic arc…
-
Common alpha-1 antitrypsin deficiency genotypes: lung cancer risk and tumour molecular profile
Background Methods Results Conclusions …
-
MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
Heterozygous carriers of autosomal recessive disease variants are often considered clinically unaffected, yet population biobanks can reveal measurable carrier phenotypes. MMACHC (MIM: 609831) encodes an intracellular cobalamin-processing protein. Bi-a…
-
This month in The Journal
Large structural variants (SVs) impact a higher percentage of individual human genomes than SNVs or indels. Despite growing evidence that links them to a variety of phenotypes, SVs have received less attention during investigations into the genetic arc…
-
How sex chromosomes influence lifelong health beyond determining biological sex
A new review published in Science brings together growing evidence that the X and Y chromosomes do more than determine biological sex. They also shape how cells function, age and respond to disease.
-
Insertion or deletion variants in <i>TAF15</i> exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort
European Journal of Human Genetics, Published online: 01 October 2026; doi:10.1038/s41431-026-02249-wInsertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japa…
-
Common alpha-1 antitrypsin deficiency genotypes: lung cancer risk and tumour molecular profile
Background Methods Results Conclusions …