Patient no. 1.

JZ Junhua Zhou
EA Elena A. B. Azizan
CC Claudia P. Cabrera
FF Fabio L. Fernandes-Rosa
SB Sheerazed Boulkroun
GA Giulia Argentesi
EC Emily Cottrell
LA Laurence Amar
XW Xilin Wu
SO Sam O’Toole
EG Emily Goodchild
AM Alison Marker
RS Russell Senanayake
SG Sumedha Garg
Tobias Åkerström
SB Samuel Backman
SJ Suzanne Jordan
SP Satyamaanasa Polubothu
DB Daniel M. Berney
AG Anna Gluck
KL Kate E. Lines
RT Rajesh V. Thakker
AT Antoinette Tuthill
CJ Caroline Joyce
JK Juan Pablo Kaski
FF Fiona E. Karet Frankl
LM Lou A. Metherell
AT Ada E. D. Teo
MG Mark Gurnell
LP Laila Parvanta
WD William M. Drake
EW Eva Wozniak
DK David Klinzing
JK Jyn Ling Kuan
ZT Zenia Tiang
CS Celso E. Gomez Sanchez
PH Per Hellman
RF Roger S. Y. Foo
CM Charles A. Mein
VK Veronica A. Kinsler
PB Peyman Björklund
HS Helen L. Storr
MZ Maria-Christina Zennaro
MB Morris J. Brown
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Using the Illumina HiSeq 2000 Sequencer, WES was conducted on DNA extracted from the APA along with paired germline DNA extracted from venous blood (samples processed commercially by GATC Biotech). WES samples were prepared as an Illumina sequencing library, and sequencing libraries were enriched using the Agilent SureSelectXT Human All Exon V6 Kit. The captured libraries were sequenced and downstream analysis conducted as described below.

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