JANUARY 16TH, 2020


The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.

Landscape of CNVs in 100K cohort

Genotyping of 100,028 European ancestry subjects identifies thousands of rare CNVs associated with 4 major disease categories: autoimmune, cardio-metabolic, oncologic, & neurological/psychiatric. The average CNV burden was ~650 kb, including a total of 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions.
Nature Communications

The ACMG on fetal exomes

The utility of fetal exome sequencing in prenatal diagnosis to improve decisions on reproductive choice, in utero therapy, delivery planning, & neonatal management when conventional methods fail to yield a definitive diagnosis: a points to consider document by ACMG.
Genetics in Medicine

A brief history of human disease genetics

This review focuses on both genetic discovery efforts targeting rare variants with large effects, as well as those seeking alleles that influence predisposition to common diseases.
Notable insights:

  • “The barriers to genomic medicine will be overcome by demonstrating clinical utility in disease management and therapeutic decision-making, with evidence for improved patient outcomes.”
  • The full potential of genomic medicine will be realized when we develop an understanding of disease mechanisms that can be translated into the medicines of tomorrow.


Graph Break !

From the same paper, the history of genetics at a glance:

Cold or Hot

Researchers emphasize that uncharacterized missense variants in BRCA1 & BRCA2 “coldspots” can be classified as likely benign rather than VUS. Current guidelines incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use “coldspots,” that is, regions without essential functions that tolerate variation.
Genetics in Medicine

Tissue & cell type specificity

A review of common mechanisms underlying cell & tissue-selective manifestation of hereditary traits & diseases, and open resources to explore molecular basis of diseases that still await resolution.
Nature Reviews Genetics

When patients become scientists

Sonia Vallabh inherited a fatal genetic mutation in prion protein gene &, along with her husband, retrained in biomedicine to research preventive therapies for prion disease.

Tarah O’Sullivan, a mother to a child with a rare genetic disease, studied genetics and biochemistry, determined to help children with rare genetic diseases and to save her own.
Clemson World

In brief:
  • US senators introduce law to enable WGS testing on children with rare diseases – Ending the Diagnostic Odyssey Act. GenomeWeb
  • Personalized Medicine in 2019: despite a significant increase in the number of precision therapies, many patients still don’t have access to them due to systemic gaps & lack of physician education. GenomeWeb
  • Genomics England will make WGS available for patients with 22 rare diseases and 4 different types of cancer starting in April. Eligible indications will be expanded over time. Genomics England

Significant Singles:

Ada Reports

(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)

Non-cleavable RIPK1 variants account for a novel disease called cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome characterized by fever, swollen lymph nodes, severe abdominal pain, gastrointestinal problems, headaches and abnormally enlarged spleen and liver. Mutations are reported in two independent papers published in Nature. Nature & Nature

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