Sini Skarp

PhD

Bioinformatician
Genetics of musculoskeletal diseases

12 peer reviewed publications in international journals. The publications have been cited 57 times, of which the most cited publication accounts for 12 citations. The author has a h-index of 5.00. (Google Scholar)

Biography

In her Ph.D. thesis Sini Skarp studied the genetics of musculoskeletal diseases. The main focus of her research was investigating the rare genetic variation predisposing to musculoskeletal diseases using whole exome sequencing and in vitro studies. She also has experience of genome-wide association studies and cDNA microarray data analysis.

Research interests

  • Genetics of common diseases
  • Next generation sequencing
  • Musculoskeletal diseases

Social media

Selected publications

  • Skarp, Sini; Kämäräinen, Olli-Pekka; Wei, Gong-Hong; Jakkula, Eveliina; Kiviranta, Ilkka; Kröger, Heikki; Auvinen, Juha; Lehenkari, Petri; Ala-Kokko, Leena; Männikkö, Minna (2018) Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis. - PLoS One 13 (8), e0203313 . [Original] [Self-archived]
  • Kraatari, Minna; Skarp, Sini; Niinimäki, Jaakko; Karppinen, Jaro; Männikkö, Minna (2017) A Whole Exome Study Identifies Novel Candidate Genes for Vertebral Bone Marrow Signal Changes (Modic Changes). - Spine 42 (16), 1201–1206 . [Original] [Self-archived]
  • Sliz, Eeva; Taipale, Mari; Welling, Maiju; Skarp, Sini; Alaraudanjoki, Viivi; Ignatius, Jaakko; Ruddock, Lloyd; Nissi, Ritva; Männikkö, Minna (2017) TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway. - PLoS One 12 (4), e0175474 . [Original] [Self-archived]
  • Costantini, Alice; Skarp, Sini; Kampe, Anders; Mäkitie, Riikka E.; Pettersson, Maria; Männikkö, Minna; Jiao, Hong; Taylan, Fulya; Lindstrand, Anna; Mäkitie, Outi (2018) Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. - Frontiers in Endocrinology 9, 380 . [Original]