Self-paced tutorial · UCSC Genome Browser
Tutorial 4: Clinical case studies — Contents
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Welcome
1
Real diagnostic variants, worked live on the Browser
2
How these case studies work
Coding variants
4
MECP2 — Rett syndrome
5
MAP2K2 — a small missense
Read the annotation carefully
7
TCF4 — but do you trust this exon?
Splicing
9
IGHMBP2 — a new splice site deep in an intron
10
KCTD7 — a synonymous variant that isn't silent
Non-coding & regulatory
12
POU1F1 — a deletion upstream of the gene
13
SHH / ZRS — a limb enhancer in an intron of LMBR1
14
RNU4-2 — a variant in a non-coding RNA gene
Structural & repeat
16
A 2.22 Mb duplication on chromosome 22
17
FGF14 — a GAA repeat expansion
More cases
19
More cases: de novo neurodevelopmental variants
Wrap-up
20
What these cases show
21
Thank you!