Threesomics

Threesomics

Her heart beat in frightened counterpoint to the rhythm of the mitochondrion. — Madeleine l’Engle, A Wind in the Door (1973) As you’ve likely heard,…

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Three small steps toward genomically sensible healthcare

Three small steps toward genomically sensible healthcare

Sailing a close reach, San Francisco Bay. (Image copyright Nathaniel Pearson) A talk at the Clinical Genome Conference resonated with some folks, who suggested sharing…

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Harmful by any other name: On clinical variant classification

Harmful by any other name: On clinical variant classification

In Phoenix this week, clinical geneticists have gathered at ACMG to catch up on health-relevant genomic findings and tools, and decide how to best put…

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The Shock of the New: What we can say about HeLa's novel variants

The Shock of the New: What we can say about HeLa’s novel variants

A human genome, remixed, and gone viral. In a nutshell, that’s the conditionally re-published genome of HeLa cells, which flourish in labs worldwide, but trace…

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Harmful by any other name: On clinical variant classification

Harmful by any other name: On clinical variant classification

In Phoenix this week, clinical geneticists have gathered at ACMG to catch up on health-relevant genomic findings and tools, and decide how to best put…

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Genodicy: sequencing, in pain but in vain, to understand violence

Genodicy: sequencing, in pain but in vain, to understand violence

Aftermath of Hurricane Sandy, Massachusetts (Image copyright Nathaniel Pearson) A journalist asked me last week to comment on reported plans to sequence — and ostensibly…

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Third-generation sequencing

Third-generation sequencing

By Gregory Snyder Since the completion of the Human Genome Project less than a decade ago, the cost of sequencing genomes has decreased more than…

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The myriad throng: Human effective population size

The myriad throng: Human effective population size

Economy recapitulates demography? (image source) Iranians count their rials in superunits of the toman, from a Mongol word for ten thousand soldiers. Remarkably, such a…

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Rare variants, disease, and population size

Rare variants, disease, and population size

Three new papers spotlight a glut of rare variants in our genomes, with key insights for human history and health.

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Why cancers are the least — and most — genetic of diseases

Why cancers are the least — and most — genetic of diseases

The plot thickens. The crab […] only runs backwards. – Arsenio Rodríguez, Cangrejo Fue a Estudiar In time, finer data and statistical models will test…

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