TY - JOUR
T1 - Pathway-based analysis of genomic variation data
AU - Atias, Nir
AU - Istrail, Sorin
AU - Sharan, Roded
N1 - Funding Information:
NA was supported in part by a fellowship from the Edmond J. Safra Center for Bioinformatics at Tel Aviv University . SI was supported by an NSF grant 1321000 . RS was supported by an I-CORE Program of the Planning and Budgeting Committee and The Israel Science Foundation (grant no. 757/12 ).
PY - 2013/12
Y1 - 2013/12
N2 - A holy grail of genetics is to decipher the mapping from genotype to phenotype. Recent advances in sequencing technologies allow the efficient genotyping of thousands of individuals carrying a particular phenotype in an effort to reveal its genetic determinants. However, the interpretation of these data entails tackling significant statistical and computational problems that stem from the complexity of human phenotypes and the huge genotypic search space. Recently, an alternative pathway-level analysis has been employed to combat these problems. In this review we discuss these developments, describe the challenges involved and outline possible solutions and future directions for improvement.
AB - A holy grail of genetics is to decipher the mapping from genotype to phenotype. Recent advances in sequencing technologies allow the efficient genotyping of thousands of individuals carrying a particular phenotype in an effort to reveal its genetic determinants. However, the interpretation of these data entails tackling significant statistical and computational problems that stem from the complexity of human phenotypes and the huge genotypic search space. Recently, an alternative pathway-level analysis has been employed to combat these problems. In this review we discuss these developments, describe the challenges involved and outline possible solutions and future directions for improvement.
UR - http://www.scopus.com/inward/record.url?scp=84889574206&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2013.09.002
DO - 10.1016/j.gde.2013.09.002
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AN - SCOPUS:84889574206
SN - 0959-437X
VL - 23
SP - 622
EP - 626
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
IS - 6
ER -