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A Good Year for Genomics

ENCODE, the rise of prenatal sequencing, and genomic medicine were among the big stories of 2012, according to year-in-review reports from around the web.

Nature and Scientific American include the ENCODE results on their lists of top science stories of the year, as does Science, which also includes the sequencing of the Denisovan genome among the most important stories of 2012.

Nature also tapped Jun Wang, the head of BGI, for its roundup of 10 "people who mattered" this year.

"As a public face for the institute, Wang uses his energy and self-effacing humor to highlight BGI's ambitions, which seem to include sequencing the genome of just about every organism on the planet," Nature says.

Wired, meantime, includes the rise of rare variants and genome sequencing for fetuses on its ranking of the top scientific discoveries of 2012.

23andMe's list of the 10 most interesting genetic findings of 2012 includes ENCODE and prenatal sequencing, but gives the top spot to the finding from Decode Genetics and collaborators that a variant in the APP gene could be protective against Alzheimer's disease.

The advance of genomic medicine was another big trend for the year. Luke Timmerman at Xconomy and Mark Wanner at the Jackson Lab's Genetics and Your Health blog both offer an overview of developments in the field in 2012.

Timmerman highlights the success of immune-sequencing firms Adaptive Biotechnologies and Sequenta, noting that "until recent advancements made DNA sequencing super-fast and super-cheap, nobody had any way to really look closely at the whole kaleidoscope of immune diversity, or the 'immune repertoire' that resides within any individual like you or me."

Wanner says that a key trend for 2012 is an ongoing "attitude shift" about the discipline of genomic medicine.

"Occasional commentaries still complain about genomic medicine being overhyped (sometimes validly), but the hue and cry has largely been replaced by quieter contemplation of how to implement genomic advances in a safe, secure way," he says.

The Scan

Missed Early Cases

A retrospective analysis of blood samples suggests early SARS-CoV-2 infections may have been missed in the US, the New York Times reports.

Limited Journal Editor Diversity

A survey finds low diversity among scientific and medical journal editors, according to The Scientist.

How Much of a Threat?

Science writes that need for a provision aimed at shoring up genomic data security within a new US bill is being questioned.

PNAS Papers on Historic Helicobacter Spread, Brain Development, C. difficile RNAs

In PNAS this week: Helicobacter genetic diversity gives insight into human migrations, gene expression patterns of brain development, and more.