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Rare Recessive Disease Insights Found in Individual Genomes

A Baylor College of Medicine-led team outlines a recurrent deletion-based approach for teasing out the genes and processes behind autosomal recessive conditions for a paper in Genome Medicine. By mapping and quantifying recurrent genomic deletions that stem from non-allelic homologous recombination (NAHR) in individual genomes, the researchers predicted such deletions across populations and came up with a related score for gauging the recessive disease influences of NAHR-related deletions. "We have demonstrated through computational modeling that NAHR-mediated recurrent genomic deletions contribute to a major fraction of burdens for recessive disease traits," they write, noting that "systematic sequencing of individuals carrying NAHR-mediated recurrent genomic deletions is a promising genomic strategy for discovery and characterization of autosomal recessive disease trait genes and alleles."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.