The gene dose makes the disease

Corrine Smolen; Santhosh Girirajan

doi:10.1016/j.cell.2022.07.005

The gene dose makes the disease

Corrine Smolen
, Santhosh Girirajan

Research output: Contribution to journal › Comment/debate › peer-review

4 Scopus citations

Abstract

A long-standing challenge in genomics has been to identify causal genes within rare copy-number variant regions that are intolerant to altered dosage. In this issue, Collins et al. perform a meta-analysis of almost a million individuals to identify dosage-sensitive segments and genes conferring risk for a range of disease phenotypes.

Original language	English (US)
Pages (from-to)	2850-2852
Number of pages	3
Journal	Cell
Volume	185
Issue number	16
DOIs	https://doi.org/10.1016/j.cell.2022.07.005
State	Published - Aug 4 2022

All Science Journal Classification (ASJC) codes

General Biochemistry, Genetics and Molecular Biology

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10.1016/j.cell.2022.07.005

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title = "The gene dose makes the disease",

abstract = "A long-standing challenge in genomics has been to identify causal genes within rare copy-number variant regions that are intolerant to altered dosage. In this issue, Collins et al. perform a meta-analysis of almost a million individuals to identify dosage-sensitive segments and genes conferring risk for a range of disease phenotypes.",

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AU - Girirajan, Santhosh

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AB - A long-standing challenge in genomics has been to identify causal genes within rare copy-number variant regions that are intolerant to altered dosage. In this issue, Collins et al. perform a meta-analysis of almost a million individuals to identify dosage-sensitive segments and genes conferring risk for a range of disease phenotypes.

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UR - https://www.scopus.com/pages/publications/85135599210#tab=citedBy

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DO - 10.1016/j.cell.2022.07.005

M3 - Comment/debate

C2 - 35931018

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VL - 185

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JO - Cell

JF - Cell

IS - 16

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The gene dose makes the disease

Abstract

All Science Journal Classification (ASJC) codes

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