Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2 , a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.
Coat Protein Complex I ; Gene Duplication ; Genome ; Genome, Human ; Humans

BACKGROUND/AIMS: Endoscopic therapy with endoscopic retrograde cholangiopancreatography (ERCP) has been suggested as an effective diagnostic and therapeutic tool for biliary and pancreatic disorders during pregnancy. In this report, we describe our experiences with pancreatobiliary endoscopic procedures during pregnancy. METHODS: We reviewed ERCP and endoscopic ultrasonography (EUS) procedures that were performed at a single tertiary care referral center between January 2002 and October 2013. Medical records were reviewed for the procedure indication, the duration of fluoroscopy, postprocedure complications, etc. Pregnancy outcomes and fetal complications were identified by chart review and phone calls to patients. RESULTS: A total of 10 ER-CPs and five EUSs were performed in 13 pregnant patients: four of whom underwent the procedure in the first trimester, eight in the second trimester, and one in the third trimester. Indications for endoscopic therapy included gallstone pancreatitis, obstructive jaundice with common bile duct (CBD) stone, asymptomatic CBD stone, pancreatic cyst, choledochal cyst, and acute cholecystitis. Only one patient had a complication, which was postprocedural hyperamylasemia. Two patients underwent an artificial abortion, one according to her own decision and the other due to an adverse drug reaction. CONCLUSIONS: ERCP seems to be effective and safe for pregnant women. Additionally, EUS can be an alternative to ERCP during pregnancy.
Adult ; Biliary Tract Diseases/*surgery ; Cholangiopancreatography, Endoscopic Retrograde/*adverse effects/methods ; Endosonography/*adverse effects/methods ; Female ; Fetus ; Humans ; Obstetric Surgical Procedures/*adverse effects/methods ; Pancreatic Diseases/*surgery ; Pregnancy ; Pregnancy Complications/*surgery ; Pregnancy Outcome ; Retrospective Studies ; Young Adult