By examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70,000 loci in which it has been observed only in the heterozygous state.

Characterization and identification of hidden rare variants in the human genome / Magi, Alberto; D'Aurizio, Romina; Palombo, Flavia; Cifola, Ingrid; Tattini, Lorenzo; Semeraro, Roberto; Pippucci, Tommaso; Giusti, Betti; Romeo, Giovanni; Abbate, Rosanna; Gensini, Gian Franco. - In: BMC GENOMICS. - ISSN 1471-2164. - ELETTRONICO. - 16:(2015), pp. 0-0. [10.1186/s12864-015-1481-9]

Characterization and identification of hidden rare variants in the human genome

MAGI, ALBERTO;TATTINI, LORENZO;SEMERARO, ROBERTO;GIUSTI, BETTI;ABBATE, ROSANNA;GENSINI, GIAN FRANCO
2015

Abstract

By examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70,000 loci in which it has been observed only in the heterozygous state.
16
0
0
Goal 3: Good health and well-being
Magi, Alberto; D'Aurizio, Romina; Palombo, Flavia; Cifola, Ingrid; Tattini, Lorenzo; Semeraro, Roberto; Pippucci, Tommaso; Giusti, Betti; Romeo, Giovanni; Abbate, Rosanna; Gensini, Gian Franco
File in questo prodotto:
File Dimensione Formato  
12864_2015_Article_1481.pdf

accesso aperto

Descrizione: PDF articolo
Tipologia: Pdf editoriale (Version of record)
Licenza: Open Access
Dimensione 1.6 MB
Formato Adobe PDF
1.6 MB Adobe PDF Visualizza/Apri

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1001773
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 15
  • ???jsp.display-item.citation.isi??? 15
social impact