schedule_2023Jan_Aug.md

Journal Club (30mins+30minsQA) (Thu)1400-1500	Presentor	Topic	Progress report (15mins+5minQA) (Fri)1300-1400	Presentor
2/16	PX	High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios	2/17	Calvin	HW	Pinfei
2/23	Daphne	Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD	2/24	郁書	PX	PM
3/2	Pinfei	Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation	3/3	庭暄	YT
3/9	YT	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing	3/10	俐伶	俐伶	Calvin
3/16	PM	Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology	3/17	HW	Pinfei	郁書
3/23	俐伶	Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data	3/24	PX	PM
3/30	PX	預口試	3/31	YT	庭暄
4/6	HW	Analysis of KIR gene variants in The Cancer Genome Atlas and UK Biobank using KIRCLE - BMC Biology	4/7	Calvin	HW	Pinfei
4/13	庭暄		4/14	郁書	PM
4/20		Clara	4/21	庭暄	YT	PX
4/27	Pinfei	A cross-disorder dosage sensitivity map of the human genome	4/28	俐伶	俐伶	HW
5/4	YT	Mono- and biallelic variant effects on disease at biobank scale	5/5	Calvin	Pinfei	郁書
5/11	俐伶	Taiwan Biobank: A rich biomedical research database of the Taiwanese population	5/12	PX	PM	庭暄
5/18	PM	Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology	5/19	YT	自航	自航
5/25	PX	Structural variation across 138,134 samples in the TOPMed consortium	5/26	Calvin	HW	Pinfei
6/1	暫停一次	暫停一次	6/2	郁書	PX	PM
6/8	暫停一次	暫停一次	6/9	庭暄	YT
6/15	HW (skipped)	Analysis of KIR gene variants in The Cancer Genome Atlas and UK Biobank using KIRCLE - BMC Biology	6/16	俐伶	俐伶	Calvin
6/22	端午	暫停一次	6/23	端午	端午	端午
6/29	Pinfei (skiped)	暫停一次 (醫技系暑期課程臨床次世代基因檢測)	6/30	HW（skipped）	Pinfei（skipped）	郁書（skipped）
7/6	YT	Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program - PubMed	7/7	HW	PM	庭暄
7/13	俐伶 （skipped）	暫停一次 (Curating the Clinical Genome 2023)	7/14	YT （skipped）	自航（skipped）	自航 （skipped）
7/20	PX	Oral Dissertation Defense (rehearsal)	7/21	Calvin	PX	自航
7/27	PM	Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology	7/28	郁書	YT	庭暄
8/3	庭暄 (skipped)	暫停一次(中研院基因體流行病學研習營)	8/4	庭暄 （skipped）	YT （skipped）
8/10	暫停一次	暫停一次(Summer break)	8/11	俐伶 （skipped）	俐伶 （skipped）	Calvin（skipped）
8/17	俐伶		8/18	HW	庭暄	郁書
8/24	Pinfei 基蛋所普渡		8/25	PX	PM	Pinfei
8/31	HW		9/1	YT	自航	自航

Updated paper:

• Truvari: refined structural variant comparison preserves allelic diversity
  
• Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
  
• Pinfei A cross-disorder dosage sensitivity map of the human genome
  
• Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
  
• Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
  
• A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
  
• Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project
  
• Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples (Genome Biology 2022)
  
• Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies (Genome Biology 2022)
  
• Variant calling and benchmarking in an era of complete human genome sequences (Nature Reviews Genetics 2023)