CytoMarseille

Laboratoire de Génétique Chromosomique, Département de Génétique médicale
Hôpital La Timone, AP-HM

[Svetlana Gorokhova @SGorokhova]

gnomAD v4 is here - ~5x larger than the v2 & v3 releases combined!

[Erik Garrison @erikgarrison]

A basic biological discovery based on the human pangenome! The short arms of acrocentric chromosomes include regions where heterologous chromosomes pair up and recombine as if they were homologs: pseudo-homologous regions (PHRs) https://t.co/1Y5YA5HNkZ https://t.co/vF0aaT5vWc

[Emilie Consolino @EmilieConsolino]

Que fait le service de génétique du Pr @kn13600 le dimanche? Il court pour la @FRM_officiel à la #marseillaisedesfemmes
Ensemble, on est forts !! @aphm_actu #timonegénétique
@schopenbauer @MorelVFC @AudreyMallet13 @CharlotteTardy1 @CytoMarseille @Emmacacahuete @BoudjaraneJohn

[CytoMarseille @CytoMarseille]

@SGorokhova @WeillCornell @TriIMDPhD Bravo Svetlana, toutes mes félicitations.

[UCSC Genome Browser @GenomeBrowser]

We are pleased to announce the DGV Gold Standard track for human (GRCh19/hg19). This track displays copy number variants, insertions/deletions, inversions and inversion breakpoints annotated by the Database of Genomic Variants. Continue reading here: https://t.co/i7R9nLVrgE

[ClinGen @ClinGenResource]

This week's ClinGen CNV Technical Standards web series topic is "Use of the ClinGen Dosage Sensitivity Map" presented by Dr. Erica Andersen from @ARUPLabs on Thur Jan 23rd 2pm ET https://t.co/gYyGIO0F2J

[Svetlana Gorokhova @SGorokhova]

Next, Olivier Quenez (Rouen) on their CNV detection pipeline using CANOES – 100% sensitivity for small panels and 87% for exomes (certain small exons missed) #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

C. Schluth-Bolard: SV detection algorithms can miss these events due to errors in reference genome, breakpoints located in repetitive elements, not enough reads with SV to pass the detection cut-off – better algorithms desperately needed #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

C. Schluth-Bolard: used FISH, 10XGenomics, PacBio CSS, Bionano to characterize these SVs, precise breakpoints identified for 8 of them (most located in LINE elements or other repeats) #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

Up next, Caroline Schluth-Bolard (Lyon) on structural variant (SV) detection by WGS. 10/86 of SV seen on caryotype were not detectable (aligned to GRCh38) #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

F.Escande : diagnostic rate of 26% for isolated cases, up to 60% for familial/syndromic. Pathogenic CNVs found in 7.4% of patients https://t.co/mOdKXeRpxL #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

Next, Charles Coutton (Tours) on genetics of masculine infertility, many recent advances including identification of novel flagellar structures #AssisesGenetique

[Marion Aubert-Mucca @M_AubertMucca]

@KevinYauy et @EvanGOUY présentent aux assises leur MOOC de Bioinformatique BIG - début le 24 février, 6 semaines, et c’est gratuit - deja 1000 inscrits! #assisesgenetique

[Svetlana Gorokhova @SGorokhova]

Afternoon sessions starting with Nicolas Chatron @NicoChatron (Lyon) on exploring genomes of 20 patients presenting a mysterious phenomenon of chromoanagenesis #AssisesGenetique

[Svetlana Gorokhova @SGorokhova]

Our article-commentary on intragenic deletions in ARID1B is out in @GIMJournal. This is the collaborative work from five diagnostic centers in France, led by @CytoMarseille team. https://t.co/lny4Yq6sB3

[CytoMarseille @CytoMarseille]

Un instant reference! We're using it already!

[Daniel MacArthur @dgmacarthur]

One of the weakness of the gnomAD data set is that we've focused entirely on small variants (SNVs and indels). UNTIL NOW. I'm excited to announce a new chapter in the project: gnomAD-SV, a systematic investigation of structural variants. Preprint here: https://t.co/DJd31L72f2