title: An unbiased index to quantify participant's phenotypic contribution to an open-access cohort.
abstract: The Personal Genome Project (PGP) is an effort to enroll many participants to create an open-access repository of genome, health and trait data for research. However, PGP participants are not enrolled for studying any specific traits and participants choose the phenotypes to disclose. To measure the extent and willingness and to encourage and guide participants to contribute phenotypes, we developed an algorithm to score and rank the phenotypes and participants of the PGP. The scoring algorithm calculates the participation index (P-index) for every participant, where 0 indicates no reported phenotypes and 100 indicate complete phenotype reporting. We calculated the P-index for all 5,015 participants in the PGP and they ranged from 0 to 96.7. We found that participants mainly have either high scores (P-index > 90, 29.5%) or low scores (P-index < 10, 57.8%). While, there are significantly more males than female participants (1,793 versus 1,271), females tend to have on average higher P-indexes (P = 0.015). We also reported the P-indexes of participants based on demographics and states like Missouri and Massachusetts have better P-indexes than states like Utah and Minnesota. The P-index can therefore be used as an unbiased way to measure and rank participant's phenotypic contribution towards the PGP.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.|Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.
authors.forename: Yingleong
authors.initials: Y
authors.lastname: Chan
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Tung
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.|Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Graduate School of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA.
authors.forename: Alexander S
authors.initials: AS
authors.lastname: Garruss
authors.affiliation: Curoverse Inc, Somerville, MA 02144, USA.
authors.forename: Sarah W
authors.initials: SW
authors.lastname: Zaranek
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.
authors.forename: Ying Kai
authors.initials: YK
authors.lastname: Chan
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.|Department of Genetics, University Medical Centre Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
authors.forename: Jeantine E
authors.initials: JE
authors.lastname: Lunshof
authors.affiliation: Curoverse Inc, Somerville, MA 02144, USA.
authors.forename: Alexander W
authors.initials: AW
authors.lastname: Zaranek
authors.affiliation: Personal Genomes.org, Boston, Massachusetts 02115, USA.
authors.forename: Madeleine P
authors.initials: MP
authors.lastname: Ball
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Chou
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
authors.forename: Elaine T
authors.initials: ET
authors.lastname: Lim
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.|Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA.
authors.forename: George M
authors.initials: GM
authors.lastname: Church
mesh_terms: D000465:Algorithms; D015331:Cohort Studies; D004194:Disease; D005260:Female; D015894:Genome, Human; D005843:Geography; D006801:Humans; D008297:Male; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D011795:Surveys and Questionnaires; D014481:United States