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Sunday 8 November 20264 genomes · 1 family · 1 report being written · server healthy
On this server

One report is being written.
Three are finished, and one finding should go to a doctor.

The Ruiz family's three genomes are read, alone and together. The benchmark run of the public sample HG002 is past halfway.

Needs attention, across everyone

Being written

a run in progress comes firstWatch it →
Benchmark · public reference sample
HG002
GIAB, male · started today 06:40 · HG002-BENCH
31 of 54 steps
31 done4 running19 waiting
Found so far
  • Identity and quality: XY as declared; 34.1× depth; contamination 0.2%.
  • 2 pathogenic ClinVar changes, both one copy in recessive genes: carrier results.
  • Medicines: 4 genes with a changed function; the drug list follows.
  • ✎Being written now: cancer predisposition, structural changes, scores, mitochondria.
Timing
6.4 h
elapsed
~19 h
to go, from usual step times
Latest

12:58  ClinVar screen finished.
12:07  ▲ One task retried with more memory; it recovered.

The Ruiz family

3 genomes, 1 relative without oneFamily report →
The family's headline

Both parents carry cystic fibrosis. Lía inherited Elena's copy only: a carrier, not affected.

Relationships match the family tree. One new change in Lía, outside any gene.

Read the family report, in five chapters →
Elena Ruiz
38 · mother · finished 4 Nov
One finding for a doctor: a BRCA2 change linked to hereditary breast and ovarian cancer. Tamoxifen needs care.
1doctor1prescriber1look2family14info
Read Elena's report →
Marc Ruiz
41 · father · finished 4 Nov · 1 step not assessed
Two medicine results and a heart cluster: clopidogrel would not work well; a high Lp(a) is likely, worth one blood test.
2prescriber2look2family15info
Read Marc's report →
Lía Ruiz
6 · daughter · finished 6 Nov · a child's report
A cystic fibrosis carrier, from Elena, not affected. CYP2C19 from Marc matters for clopidogrel. Adult-onset results stay closed.
1prescriber1look1family12info
Read Lía's report →
Carmen VidalElena's mother · in the family tree, no genome on this serverAdd a genome

Every run

the log, for whoever runs the server
RunPersonStateStepsHoursFinishedNotes
HG002-BENCHHG002 (public)  running31 / 546.4about 19 h more1 task retried with more memory
RUIZ-FAMILYElena, Marc, Líafinished7 / 8—6 Nov, 14:22grandparent step skipped: no genome for Carmen
RUIZ-LIALía Ruizfinished54 / 5428.66 Nov, 12:053 skipped, by design
RUIZ-MARCMarc Ruizfinished53 / 5433.64 Nov, 17:40▲ MUC1 kidney step not assessed: depth 41×, needs 100×
RUIZ-ELENAElena Ruizfinished54 / 5430.64 Nov, 03:513 skipped, by design

● ClinVar 2026-11-06 is out. The three Ruiz reports used 2026-10-02; re-checking would update their carrier lists and the couple screen. Re-check all three