On the Optimal Design of Genetic Variant Discovery Studies

被引：11

作者：

Ionita-Laza, Iuliana ^{[1
]}

Laird, Nan M. ^{[2
]}

机构：

[1] Columbia Univ, New York, NY 10027 USA

[2] Harvard Univ, Sch Publ Hlth, Cambridge, MA 02138 USA

来源：

STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY | 2010年 / 9卷 / 01期

关键词：

NUMBER; GENOME;

D O I：

10.2202/1544-6115.1581

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The methods here are also useful for estimating the number of genetic variants missed in a discovery study performed at low coverage. We show applications to simulated data based on coalescent models and to sequence data from the ENCODE project. In particular, we show the extent to which combining data from multiple populations in a discovery study may increase the number of genetic variants identified relative to studies on single populations.

引用

页数：17

共 15 条

[1]

BROMWICH T, 1955, INTRO THEORY INFINIT

[2] ESTIMATING THE NUMBER OF SPECIES - A REVIEW [J].