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TheJacksonLaboratory
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LIRICAL
LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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SPTA1
#412
pnrobinson
closed
5 years ago
2
Gene rank
#411
pnrobinson
closed
5 years ago
2
Myhre syndrome
#410
pnrobinson
closed
5 years ago
1
BRPF1
#409
pnrobinson
closed
5 years ago
0
high quality ClinVar
#408
pnrobinson
closed
5 years ago
1
Bernard-Soulier syndrome, type A1 (recessive) not being prioritzied 231200
#407
pnrobinson
closed
5 years ago
8
SVG -- the gene basr overlaps with the X-axis
#406
pnrobinson
closed
5 years ago
1
Are the rankings being calculated correctly?
#405
pnrobinson
closed
5 years ago
1
mistakenly commited to master, bringing develop up to date
#404
pnrobinson
closed
5 years ago
0
Fix PhenopacketImporterTest
#403
pnrobinson
closed
5 years ago
1
Develop
#402
pnrobinson
closed
5 years ago
0
Addresses https://github.com/TheJacksonLaboratory/LIRICAL/issues/387
#401
pnrobinson
closed
5 years ago
0
Develop
#400
pnrobinson
closed
5 years ago
0
Check for obsolete
#399
pnrobinson
closed
5 years ago
0
Crash if HPO term not found.
#398
pnrobinson
closed
5 years ago
1
Update to latest phenopacket version 1.0RC
#397
pnrobinson
closed
5 years ago
1
Develop
#396
pnrobinson
closed
5 years ago
0
7 phenopackets did not run as they have this type of error.
#395
pnrobinson
closed
5 years ago
1
YAML file can now do non-VCF analysis
#394
pnrobinson
closed
5 years ago
0
fixing TSV/HTML
#393
pnrobinson
closed
5 years ago
0
Develop
#392
pnrobinson
closed
5 years ago
0
Phenotype only outout not showing phenotype explanations
#391
pnrobinson
closed
5 years ago
2
Add more options to YAML file
#390
pnrobinson
closed
5 years ago
1
Clean up arguments
#389
pnrobinson
closed
5 years ago
1
Develop
#388
pnrobinson
closed
5 years ago
0
allow LIRICAL to be run from YAML file without VCF
#387
pnrobinson
closed
5 years ago
1
Develop
#386
pnrobinson
closed
5 years ago
0
TGFBR2 case
#385
pnrobinson
closed
5 years ago
1
FKBP10 case
#384
pnrobinson
closed
5 years ago
1
MED23 case
#383
pnrobinson
closed
5 years ago
1
ZIC2 case
#382
pnrobinson
closed
5 years ago
1
TJP2 case
#381
pnrobinson
closed
5 years ago
1
FOXG1 cases
#380
pnrobinson
closed
5 years ago
1
counting pathogenic homoyzgous variants
#379
pnrobinson
closed
5 years ago
1
FERMT3
#378
pnrobinson
closed
5 years ago
1
SLC35C1
#377
pnrobinson
closed
5 years ago
1
MEN1 case
#376
pnrobinson
closed
5 years ago
1
DHCR7 case
#375
pnrobinson
closed
5 years ago
1
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients
#374
pnrobinson
closed
5 years ago
1
A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
#373
pnrobinson
closed
5 years ago
1
TTC37
#372
pnrobinson
closed
5 years ago
1
PANK2 case
#371
pnrobinson
closed
5 years ago
1
PLAG2 case
#370
pnrobinson
closed
5 years ago
1
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
#369
pnrobinson
closed
5 years ago
1
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
#368
pnrobinson
closed
5 years ago
1
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism
#367
pnrobinson
closed
5 years ago
1
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
#366
pnrobinson
closed
5 years ago
1
Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
#365
pnrobinson
closed
5 years ago
1
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
#364
pnrobinson
closed
5 years ago
1
KIF5A
#363
pnrobinson
closed
5 years ago
0
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