Whole_Genome_sequencing_of_individuals_from_Val_Borbera__Italy

This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001000731	This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits.	Illumina HiSeq 2000	100

Publications	Citations
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability. Concas MP, Morgan A, Serra F, Nagtegaal AP, Oosterloo BC, Seshadri S, Heard-Costa N, Van Camp G, Fransen E, Francescatto M, Logroscino G, Sardone R, Quaranta N, Gasparini P, Girotto G. Genes (Basel) 12: 2021 1228	1
Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking? Graham CA, Spedicati B, Pelliccione G, Gasparini P, Concas MP. Foods 12: 2023 1739	0