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Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

A series of editorials and policy reports examining advances made in human genomic science are presented in this week's Science. In the first piece, Genentech's Jennifer Rood and Aviv Regev discuss the legacy of the Human Genome Project, how it has shaped scientific and clinical research and questions that it has left unanswered. Next, a team from the University of Maryland Carey School of Law describe a recently passed law in Maryland that regulates the use of consumer genetic data by law enforcement and how it may provide a roadmap for similar legislation in other states. Lastly, researchers in the US and abroad present four reviews looking at genomics in human health and history. The first examines efforts to characterize the molecular and cellular effects of genetic variants; the second discusses how scientists are understanding the role of polygenicity in common disease; the third covers initiatives to map the genomic and epigenomic factors involved in cancer; and the last focuses on how sequencing of ancient DNA is changing views of humans' evolutionary past.

A technique for the high-throughput single-cell quantification of hundreds of proteins using standard flow cytometry instrumentation is reported in Science Advances. Developed by a team led by Fred Hutchinson Cancer Research Center investigators, the method — called Infinity Flow — combines hundreds of overlapping flow cytometry panels with machine learning to enable the simultaneous analysis of the co-expression patterns of hundreds of surface-expressed proteins across millions of individual cells. "Infinity Flow enables broad phenotypic characterization of many cell subsets at the level of a whole organ" and represents "a highly scalable, low-cost, and accessible solution to single-cell proteomics in complex tissues," they write.

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.