From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

被引：0

作者：

Nilsson, D. ^{[1
,2
,3
]}

Eisfeldt, J. ^{[1
,2
,3
]}

Lundin, J. ^{[1
,3
,4
]}

Pettersson, M. ^{[1
,3
,5
]}

Kvarnung, M. ^{[1
,3
,5
]}

Lieden, A. ^{[1
,3
,5
]}

Sahlin, E. ^{[1
,3
,5
]}

Lagerstedt, K. ^{[1
,3
,5
]}

Martin, M. ^{[6
]}

Ygberg, S. ^{[7
,8
]}

Bjerin, O. ^{[7
]}

Stranneheim, H. ^{[2
,3
,8
]}

Wedell, A. ^{[2
,3
,8
]}

Nordenskjold, M. ^{[1
,3
,5
]}

Soller, M. Johansson ^{[1
,3
,5
]}

Nordgren, A. ^{[1
,3
,5
]}

Wirta, V. ^{[9
,10
]}

Lindstrand, A. ^{[1
,3
,5
]}

机构：

[1] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[2] Karolinska Inst, Dept Mol Med & Surg, SciLifeLab, Stockholm, Sweden

[3] Karolinska Inst, Ctr Mol Med, Stockholm, Sweden

[4] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden

[5] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[6] Stockholm Univ, Natl Bioinformat Infrastruct Sweden, Sci Life Lab, Dept Biochem & Biophys, Solna, Sweden

[7] Karolinska Inst, Inst Womens & Childrens Hlth, Neuropediat Unit, Stockholm, Sweden

[8] Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden

[9] KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, SciLifeLab, Stockholm, Sweden

[10] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, SciLifeLab, Stockholm, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P14.113D

引用

页码：1666 / 1667

页数：2

共 50 条

[41] Whole-exome sequencing for the discovery of rare genetic variants that protect from coronary artery disease
Leopold, Jane A.
CORONARY ARTERY DISEASE, 2016, 27 (04) : 253 - 254
[42] Uncovering the roles of rare variants in common disease through whole-genome sequencing
Elizabeth T. Cirulli
David B. Goldstein
Nature Reviews Genetics, 2010, 11 : 415 - 425
[43] Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, Elizabeth T.
Goldstein, David B.
NATURE REVIEWS GENETICS, 2010, 11 (06) : 415 - 425
[44] Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing
Thangavelu, Tharshini
Wirta, Valtteri
Orsmark-Pietras, Christina
Cavelier, Lucia
Fioretos, Thoas
Barbany, Gisela
Olsson-Arvidsson, Linda
Pandzic, Tatjana
Staffas, Anna
Rosenquist, Richard
Levin, Lars-ake
JOURNAL OF MEDICAL ECONOMICS, 2024, 27 (01) : 1053 - 1060
[45] Optimized shallow whole-genome sequencing for large CNV detection in rare genetic disorders
Marais, Anett
Kandaswamy, Krishna Kumar
Romito, Antonio
Ordonez, Natalia
Alvarez, Dan Diego
Bruesehafer, Katja
Weckesser, Volkmar
Bauer, Peter
Marcello, Jonas
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 454 - 455
[46] Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases
Nisar, Haseeb
Wajid, Bilal
Shahid, Samiah
Anwar, Faria
Wajid, Imran
Khatoon, Asia
Sattar, Mian Usman
Sadaf, Saima
EXPERIMENTAL BIOLOGY AND MEDICINE, 2021, 246 (24) : 2610 - 2617
[47] Machine learning approaches for advanced detection of rare genetic disorders in whole-genome sequencing
Alzahrani, Ahmad A.
Alharithi, Fahd S.
ALEXANDRIA ENGINEERING JOURNAL, 2024, 106 : 582 - 593
[48] COST-EFFECTIVENESS OF EARLIER WHOLE-GENOME SEQUENCING IN RARE GENETIC CHILDHOOD EPILEPSY
Suokas, A.
Yi, Y.
Hirst, A.
VALUE IN HEALTH, 2022, 25 (12) : S68 - S68
[49] The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Thorpe, Erin
Williams, Taylor
Shaw, Chad
Chekalin, Evgenii
Ortega, Julia
Robinson, Keisha
Button, Jason
Jones, Marilyn C.
del Campo, Miguel
Basel, Donald
McCarrier, Julie
Keppen, Laura Davis
Royer, Erin
Foster-Bonds, Romina
Duenas-Roque, Milagros M.
Urraca, Nora
Bosfield, Kerri
Brown, Chester W.
Lydigsen, Holly
Mroczkowski, Henry J.
Ward, Jewell
Sirchia, Fabio
Giorgio, Elisa
Vaux, Keith
Salguero, Hildegard Pena
Lumaka, Aime
Mubungu, Gerrye
Makay, Prince
Ngole, Mamy
Lukusa, Prosper Tshilobo
Vanderver, Adeline
Muirhead, Kayla
Sherbini, Omar
Lah, Melissa D.
Anderson, Katelynn
Bazalar-Montoya, Jeny
Rodriguez, Richard S.
Cornejo-Olivas, Mario
Milla-Neyra, Karina
Shinawi, Marwan
Magoulas, Pilar
Henry, Duncan
Gibson, Kate
Wiafe, Samuel
Jayakar, Parul
Salyakina, Daria
Masser-Frye, Diane
Serize, Arturo
Perez, Jorge E.
Taylor, Alan
AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (07) : 1271 - 1281
[50] Genome-wide Sequencing Ontario (GSO): An implementation pilot to improve rare disease diagnostics
Marshall, Christian
Gillespie, Meredith
Szuto, Anna
Chisholm, Caitlin
Stavropoulos, James
Venkataramanan, Viji
Tsiplova, Kate
Price, Magda
Lau, Lynette
Khan, Reem
Lee, Whiwon
Huang, Lijia
Jarinova, Olga
Sawyer, Sarah
Ungar, Wendy
Mendoza, Roberto
Hayeems, Robin
Somerville, Martin
Boycott, Kym
GENETICS IN MEDICINE, 2022, 24 (03) : S318 - S318

← 1 2 3 4 5 →