Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model
INTRODUCTION: With the increasing use of whole-exome sequencing, one of the challenges in identifying the causal allele for a Mendelian disease is the lack of availability of population-specific human genetic variation reference databases. The people of Turkey were not represented in GnomAD or other...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2022-09-01
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| Series: | JCRPE |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-52824 |