Additional file 3 of Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

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Pagnamenta, Alistair T.;Camps, Carme;Giacopuzzi, Edoardo;Taylor, John M.;Hashim, Mona;Calpena, Eduardo;Kaisaki, Pamela J.;Hashimoto, Akiko;Yu, Jing;Sanders, Edward;Schwessinger, Ron;Hughes, Jim R.;Lunter, Gerton;Dreau, Helene;Ferla, Matteo;Lange, Lukas;Kesim, Yesim;Ragoussis, Vassilis;Vavoulis, Dimitrios V.;Allroggen, Holger;Ansorge, Olaf;Babbs, Christian;Banka, Siddharth;Baños-Piñero, Benito;Beeson, David;Ben-Ami, Tal;Bennett, David L.;Bento, Celeste;Blair, Edward;Brasch-Andersen, Charlotte;Bull, Katherine R.;Cario, Holger;Cilliers, Deirdre;Conti, Valerio;Davies, E. Graham;Dhalla, Fatima;Dacal, Beatriz Diez;Dong, Yin;Dunford, James E.;Guerrini, Renzo;Harris, Adrian L.;Hartley, Jane;Hollander, Georg;Javaid, Kassim;Kane, Maureen;Kelly, Deirdre;Kelly, Dominic;Knight, Samantha J. L.;Kreins, Alexandra Y.;Kvikstad, Erika M.;Langman, Craig B.;Lester, Tracy;Lines, Kate E.;Lord, Simon R.;Lu, Xin;Mansour, Sahar;Manzur, Adnan;Maroofian, Reza;Marsden, Brian;Mason, Joanne;McGowan, Simon J.;Mei, Davide;Mlcochova, Hana;Murakami, Yoshiko;Németh, Andrea H.;Okoli, Steven;Ormondroyd, Elizabeth;Ousager, Lilian Bomme;Palace, Jacqueline;Patel, Smita Y.;Pentony, Melissa M.;Pugh, Chris;Rad, Aboulfazl;Ramesh, Archana;Riva, Simone G.;Roberts, Irene;Roy, Noémi;Salminen, Outi;Schilling, Kyleen D.;Scott, Caroline;Sen, Arjune;Smith, Conrad;Stevenson, Mark;Thakker, Rajesh V.;Twigg, Stephen R. F.;Uhlig, Holm H.;van Wijk, Richard;Vona, Barbara;Wall, Steven;Wang, Jing;Watkins, Hugh;Zak, Jaroslav;Schuh, Anna H.;Kini, Usha;Wilkie, Andrew O. M.;Popitsch, Niko;Taylor, Jenny C.

Description

Additional file 3. Supplementary Tables S1-S9.

Citations (1)

https://doi.org/10.1186/s13073-023-01240-0
DataCite
Cited on 09 November 2023
Weight: 1.00

Mentions (0)

No mentions found

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Metrics

Dataset Index

0.7

FAIR Score

15%

Citations

Mentions

Metrics Over Time

Publication Details

DOI

10.6084/m9.figshare.26990317

Publisher

figshare

Assigned Domain

Subfield

Genetics

Field

Biochemistry, Genetics and Molecular Biology

Domain

Life Sciences

Confidence Score

54%

Source

Scholar Data Model

Keywords

GeneticsFOS: Biological sciences

Normalization Factors

13.46

CTw

1.00

MTw

1.00