Regional nonsense constraint offers biological and clinical insights into genetic disease

Nature·Feb 25

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1

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint

Nature·Nov 7

2

A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data

Nature·May 20

3

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

Nature·Nov 20

4

A genome sequencing program for novel undiagnosed diseases

Nature·Mar 19

5

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

Nature·Jun 7

6

Classifying diseases by using biological features to identify potential nosological models

Nature·Oct 26