Chiara Rasi
Science for Life Laboratory
15 Papers
4 Citations
Chiara Rasi is an academic researcher from Science for Life Laboratory. The author has contributed to research in topics: Biology & Gene. The author has an hindex of 10, co-authored 11 publications. Previous affiliations of Chiara Rasi include Uppsala University.
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Papers
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer
Lars Forsberg,Chiara Rasi,Niklas Malmqvist,Hanna Davies,Saichand Pasupulati,Geeta Pakalapati,Johanna Sandgren,Teresita Díaz de Ståhl,Ammar Zaghlool,Vilmantas Giedraitis,Lars Lannfelt,Joannah Score,Nicholas C.P. Cross,Devin Absher,Eva Tiensuu Janson,Cecilia M. Lindgren,Andrew P. Morris,Erik Ingelsson,Lars Lind,Jan P. Dumanski +19 more
TL;DR: The impact of post-zygotic mosaicism on disease risk is illustrated, could explain why males are more frequently affected by cancer and suggest that chromosome Y is important in processes beyond sex determination.
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Jan P. Dumanski,Jan P. Dumanski,Jean-Charles Lambert,Chiara Rasi,Chiara Rasi,Vilmantas Giedraitis,Hanna Davies,Hanna Davies,Benjamin Grenier-Boley,Cecilia M. Lindgren,Cecilia M. Lindgren,Dominique Campion,Carole Dufouil,Florence Pasquier,Philippe Amouyel,Lars Lannfelt,Martin Ingelsson,Lena Kilander,Lars Lind,Lars Forsberg,Lars Forsberg +20 more
TL;DR: LOY in blood is associated with risks of both AD and cancer, suggesting a role of LOY in blood cells on disease processes in other tissues, possibly via defective immunosurveillance as a male-specific risk factor.
Smoking is associated with mosaic loss of chromosome Y
Jan P. Dumanski,Jan P. Dumanski,Chiara Rasi,Chiara Rasi,Mikael Lönn,Hanna Davies,Hanna Davies,Martin Ingelsson,Vilmantas Giedraitis,Lars Lannfelt,Patrik K. E. Magnusson,Cecilia M. Lindgren,Cecilia M. Lindgren,Andrew P. Morris,Andrew P. Morris,David Cesarini,Magnus Johannesson,Eva Tiensuu Janson,Lars Lind,Nancy L. Pedersen,Erik Ingelsson,Erik Ingelsson,Lars Forsberg,Lars Forsberg +23 more
TL;DR: It is demonstrated here that smoking is associated with LOY in blood cells in three independent cohorts, and the finding that smoking induces LOY thus links a preventable risk factor with the most common acquired human mutation.
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim,Henrik Stranneheim,Henrik Stranneheim,Kristina Lagerstedt-Robinson,Kristina Lagerstedt-Robinson,Måns Magnusson,Måns Magnusson,Malin Kvarnung,Malin Kvarnung,Daniel Nilsson,Daniel Nilsson,Nicole Lesko,Nicole Lesko,Martin Engvall,Martin Engvall,Britt-Marie Anderlid,Britt-Marie Anderlid,Henrik Arnell,Carolina Backman Johansson,Michela Barbaro,Erik Björck,Erik Björck,Helene Bruhn,Helene Bruhn,Jesper Eisfeldt,Jesper Eisfeldt,Christoph Freyer,Christoph Freyer,Giedre Grigelioniene,Giedre Grigelioniene,Peter Gustavsson,Peter Gustavsson,Anna Hammarsjö,Anna Hammarsjö,Maritta Hellström-Pigg,Maritta Hellström-Pigg,Erik Iwarsson,Erik Iwarsson,Anders Jemt,Mikael Laaksonen,Sara Lind Enoksson,Helena Malmgren,Helena Malmgren,Karin Naess,Magnus Nordenskjöld,Magnus Nordenskjöld,Mikael Oscarson,Maria Pettersson,Maria Pettersson,Chiara Rasi,Adam Rosenbaum,Ellika Sahlin,Ellika Sahlin,Eliane Sardh,Eliane Sardh,Tommy Stödberg,Tommy Stödberg,Bianca Tesi,Bianca Tesi,Emma Tham,Emma Tham,Håkan Thonberg,Håkan Thonberg,Virpi Töhönen,Ulrika von Döbeln,Daphne Vassiliou,Daphne Vassiliou,Sofie Vonlanthen,Ann-Charlotte Wikström,Josephine Wincent,Josephine Wincent,Ola Winqvist,Anna Wredenberg,Anna Wredenberg,Sofia Ygberg,Sofia Ygberg,Rolf Zetterström,Rolf Zetterström,Per Marits,Maria Johansson Soller,Maria Johansson Soller,Ann Nordgren,Ann Nordgren,Valtteri Wirta,Anna Lindstrand,Anna Lindstrand,Anna Wedell,Anna Wedell,Anna Wedell +88 more
TL;DR: In this article, the authors report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015.
Mosaic loss of chromosome Y in leukocytes matters
Lars Forsberg,Lars Forsberg,Jonatan Halvardson,Edyta Rychlicka-Buniowska,Marcus Danielsson,Behrooz Torabi Moghadam,Jonas Mattisson,Chiara Rasi,Hanna Davies,Lars Lind,Vilmantas Giedraitis,Lars Lannfelt,Lena Kilander,Martin Ingelsson,Jan P. Dumanski,Jan P. Dumanski +15 more
TL;DR: The presented analysis clarifies the utility and limits of the deterministic approximation; details the effect of this assumption on the authors' gene-specific estimates of heterozygous selection coefficients; and reiterates the practical utility of selection estimates in human genetics.
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